openapi: 3.0.1 info: title: Genome Nexus API description: |- This page shows how to use HTTP requests to access the Genome Nexus API. There are more high level clients available in Python, R, JavaScript, TypeScript and various other languages as well as a command line client to annotate MAF and VCF. See https://docs.genomenexus.org/api. Aside from programmatic clients there are web based tools to annotate variants, see https://docs.genomenexus.org/tools. We currently only provide long-term support for the '/annotation' endpoint. The other endpoints might change. license: name: MIT License url: https://github.com/genome-nexus/genome-nexus/blob/master/LICENSE version: "2.0" servers: - url: http://localhost:30110 - url: https://localhost:30110/ tags: - name: info-controller description: Info Controller - name: pdb-controller description: PDB Controller - name: annotation-controller description: Annotation Controller - name: ptm-controller description: PTM Controller - name: pfam-controller description: PFAM Controller - name: ensembl-controller description: Ensembl Controller paths: /annotation: post: tags: - annotation-controller summary: Retrieves VEP annotation for the provided list of variants operationId: fetchVariantAnnotationPOST parameters: - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string - name: token in: query description: "Map of tokens. For example {\"source1\":\"put-your-token1-here\"\ ,\"source2\":\"put-your-token2-here\"}" schema: type: string - name: fields in: query description: "Comma separated list of fields to include (case-sensitive!).\ \ For example: hotspots" style: form explode: true schema: type: array items: type: string default: hotspots requestBody: description: "List of variants. For example [\"X:g.66937331T>A\",\"17:g.41242962_41242963insGA\"\ ] (GRCh37) or [\"1:g.182712A>C\", \"2:g.265023C>T\", \"3:g.319781del\",\ \ \"19:g.110753dup\", \"1:g.1385015_1387562del\"] (GRCh38)" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/VariantAnnotation' x-codegen-request-body-name: variants /annotation/dbsnp/: post: tags: - annotation-controller summary: Retrieves VEP annotation for the provided list of dbSNP ids operationId: fetchVariantAnnotationByIdPOST parameters: - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string - name: token in: query description: "Map of tokens. For example {\"source1\":\"put-your-token1-here\"\ ,\"source2\":\"put-your-token2-here\"}" schema: type: string - name: fields in: query description: "Comma separated list of fields to include (case-sensitive!).\ \ For example: annotation_summary" style: form explode: true schema: type: array items: type: string default: annotation_summary requestBody: description: "List of variant IDs. For example [\"rs116035550\"]" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/VariantAnnotation' x-codegen-request-body-name: variantIds /annotation/dbsnp/{variantId}: get: tags: - annotation-controller summary: Retrieves VEP annotation for the give dbSNP id operationId: fetchVariantAnnotationByIdGET parameters: - name: variantId in: path description: dbSNP id. For example rs116035550. required: true schema: type: string - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string - name: token in: query description: "Map of tokens. For example {\"source1\":\"put-your-token1-here\"\ ,\"source2\":\"put-your-token2-here\"}" schema: type: string - name: fields in: query description: "Comma separated list of fields to include (case-sensitive!).\ \ For example: annotation_summary" style: form explode: true schema: type: array items: type: string default: annotation_summary responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/VariantAnnotation' /annotation/genomic: post: tags: - annotation-controller summary: Retrieves VEP annotation for the provided list of genomic locations operationId: fetchVariantAnnotationByGenomicLocationPOST parameters: - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string - name: token in: query description: "Map of tokens. For example {\"source1\":\"put-your-token1-here\"\ ,\"source2\":\"put-your-token2-here\"}" schema: type: string - name: fields in: query description: "Comma separated list of fields to include (case-sensitive!).\ \ For example: hotspots" style: form explode: true schema: type: array items: type: string default: hotspots requestBody: description: List of Genomic Locations content: application/json: schema: type: array items: $ref: '#/components/schemas/GenomicLocation' required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/VariantAnnotation' x-codegen-request-body-name: genomicLocations /annotation/genomic/{genomicLocation}: get: tags: - annotation-controller summary: Retrieves VEP annotation for the provided genomic location operationId: fetchVariantAnnotationByGenomicLocationGET parameters: - name: genomicLocation in: path description: "A genomic location. For example 7,140453136,140453136,A,T" required: true schema: type: string - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string - name: token in: query description: "Map of tokens. For example {\"source1\":\"put-your-token1-here\"\ ,\"source2\":\"put-your-token2-here\"}" schema: type: string - name: fields in: query description: "Comma separated list of fields to include (case-sensitive!).\ \ For example: hotspots" style: form explode: true schema: type: array items: type: string default: hotspots responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/VariantAnnotation' /annotation/{variant}: get: tags: - annotation-controller summary: Retrieves VEP annotation for the provided variant operationId: fetchVariantAnnotationGET parameters: - name: variant in: path description: Variant. For example 17:g.41242962_41242963insGA required: true schema: type: string - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string - name: token in: query description: "Map of tokens. For example {\"source1\":\"put-your-token1-here\"\ ,\"source2\":\"put-your-token2-here\"}" schema: type: string - name: fields in: query description: "Comma separated list of fields to include (case-sensitive!).\ \ For example: hotspots" style: form explode: true schema: type: array items: type: string default: hotspots responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/VariantAnnotation' /ensembl/canonical-gene/entrez: post: tags: - ensembl-controller summary: Retrieves canonical Ensembl Gene ID by Entrez Gene Ids operationId: fetchCanonicalEnsemblGeneIdByEntrezGeneIdsPOST requestBody: description: "List of Entrez Gene Ids. For example [\"23140\",\"26009\",\"\ 100131879\"]" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/EnsemblGene' x-codegen-request-body-name: entrezGeneIds /ensembl/canonical-gene/entrez/{entrezGeneId}: get: tags: - ensembl-controller summary: Retrieves Ensembl canonical gene id by Entrez Gene Id operationId: fetchCanonicalEnsemblGeneIdByEntrezGeneIdGET parameters: - name: entrezGeneId in: path description: An Entrez Gene Id. For example 23140 required: true schema: type: string responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/EnsemblGene' /ensembl/canonical-gene/hgnc: post: tags: - ensembl-controller summary: Retrieves canonical Ensembl Gene ID by Hugo Symbols operationId: fetchCanonicalEnsemblGeneIdByHugoSymbolsPOST requestBody: description: "List of Hugo Symbols. For example [\"TP53\",\"PIK3CA\",\"BRCA1\"\ ]" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/EnsemblGene' x-codegen-request-body-name: hugoSymbols /ensembl/canonical-gene/hgnc/{hugoSymbol}: get: tags: - ensembl-controller summary: Retrieves Ensembl canonical gene id by Hugo Symbol operationId: fetchCanonicalEnsemblGeneIdByHugoSymbolGET parameters: - name: hugoSymbol in: path description: A Hugo Symbol. For example TP53 required: true schema: type: string responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/EnsemblGene' /ensembl/canonical-transcript/hgnc: post: tags: - ensembl-controller summary: Retrieves Ensembl canonical transcripts by Hugo Symbols operationId: fetchCanonicalEnsemblTranscriptsByHugoSymbolsPOST parameters: - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string default: uniprot requestBody: description: "List of Hugo Symbols. For example [\"TP53\",\"PIK3CA\",\"BRCA1\"\ ]" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/EnsemblTranscript' x-codegen-request-body-name: hugoSymbols /ensembl/canonical-transcript/hgnc/{hugoSymbol}: get: tags: - ensembl-controller summary: Retrieves Ensembl canonical transcript by Hugo Symbol operationId: fetchCanonicalEnsemblTranscriptByHugoSymbolGET parameters: - name: hugoSymbol in: path description: A Hugo Symbol. For example TP53 required: true schema: type: string - name: isoformOverrideSource in: query description: Isoform override source. For example uniprot schema: type: string default: uniprot responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/EnsemblTranscript' /ensembl/transcript: get: tags: - ensembl-controller summary: "Retrieves Ensembl Transcripts by protein ID, and gene ID. Retrieves\ \ all transcripts in case no query parameter provided" operationId: fetchEnsemblTranscriptsGET parameters: - name: geneId in: query description: An Ensembl gene ID. For example ENSG00000136999 schema: type: string - name: proteinId in: query description: An Ensembl protein ID. For example ENSP00000439985 schema: type: string - name: hugoSymbol in: query description: A Hugo Symbol For example ARF5 schema: type: string responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/EnsemblTranscript' post: tags: - ensembl-controller summary: "Retrieves Ensembl Transcripts by Ensembl transcript IDs, hugo Symbols,\ \ protein IDs, or gene IDs" operationId: fetchEnsemblTranscriptsByEnsemblFilterPOST requestBody: description: "List of Ensembl transcript IDs. For example [\"ENST00000361390\"\ , \"ENST00000361453\", \"ENST00000361624\"]
OR
List of Hugo Symbols.\ \ For example [\"TP53\", \"PIK3CA\", \"BRCA1\"]
OR
List of Ensembl\ \ protein IDs. For example [\"ENSP00000439985\", \"ENSP00000478460\", \"\ ENSP00000346196\"]
OR
List of Ensembl gene IDs. For example [\"ENSG00000136999\"\ , \"ENSG00000272398\", \"ENSG00000198695\"]" content: application/json: schema: $ref: '#/components/schemas/EnsemblFilter' required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/EnsemblTranscript' x-codegen-request-body-name: ensemblFilter /ensembl/transcript/{transcriptId}: get: tags: - ensembl-controller summary: Retrieves the transcript by an Ensembl transcript ID operationId: fetchEnsemblTranscriptByTranscriptIdGET parameters: - name: transcriptId in: path description: An Ensembl transcript ID. For example ENST00000361390 required: true schema: type: string responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/EnsemblTranscript' /ensembl/xrefs: get: tags: - ensembl-controller summary: Perform lookups of Ensembl identifiers and retrieve their external references in other databases operationId: fetchGeneXrefsGET parameters: - name: accession in: query description: Ensembl gene accession. For example ENSG00000169083 required: true schema: type: string responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/GeneXref' /pdb/header: post: tags: - pdb-controller summary: Retrieves PDB header info by a PDB id operationId: fetchPdbHeaderPOST requestBody: description: "List of pdb ids, for example [\"1a37\",\"1a4o\"]" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/PdbHeader' x-codegen-request-body-name: pdbIds /pdb/header/{pdbId}: get: tags: - pdb-controller summary: Retrieves PDB header info by a PDB id operationId: fetchPdbHeaderGET parameters: - name: pdbId in: path description: "PDB id, for example 1a37" required: true schema: type: string responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/PdbHeader' /pfam/domain: post: tags: - pfam-controller summary: Retrieves PFAM domains by PFAM domain accession IDs operationId: fetchPfamDomainsByPfamAccessionPOST requestBody: description: "List of PFAM domain accession IDs. For example [\"PF02827\"\ ,\"PF00093\",\"PF15276\"]" content: application/json: schema: type: array items: type: string required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/PfamDomain' x-codegen-request-body-name: pfamAccessions /pfam/domain/{pfamAccession}: get: tags: - pfam-controller summary: Retrieves a PFAM domain by a PFAM domain ID operationId: fetchPfamDomainsByAccessionGET parameters: - name: pfamAccession in: path description: A PFAM domain accession ID. For example PF02827 required: true schema: type: string responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/PfamDomain' /ptm/experimental: get: tags: - ptm-controller summary: Retrieves PTM entries by Ensembl Transcript ID operationId: fetchPostTranslationalModificationsGET parameters: - name: ensemblTranscriptId in: query description: Ensembl Transcript ID. For example ENST00000646891 schema: type: string responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/PostTranslationalModification' post: tags: - ptm-controller summary: Retrieves PTM entries by Ensembl Transcript IDs operationId: fetchPostTranslationalModificationsByPtmFilterPOST requestBody: description: "List of Ensembl transcript IDs. For example [\"ENST00000420316\"\ , \"ENST00000646891\", \"ENST00000371953\"]" content: application/json: schema: $ref: '#/components/schemas/PtmFilter' required: true responses: "200": description: OK content: application/json: schema: type: array items: $ref: '#/components/schemas/PostTranslationalModification' x-codegen-request-body-name: ptmFilter /version: get: tags: - info-controller summary: Retrieve Genome Nexus Version operationId: fetchVersionGET responses: "200": description: OK content: application/json: schema: $ref: '#/components/schemas/Version' components: schemas: AlleleCount: required: - ac - ac_afr - ac_amr - ac_asj - ac_eas - ac_fin - ac_nfe - ac_oth - ac_sas type: object properties: ac: type: integer format: int32 ac_afr: type: integer format: int32 ac_amr: type: integer format: int32 ac_asj: type: integer format: int32 ac_eas: type: integer format: int32 ac_fin: type: integer format: int32 ac_nfe: type: integer format: int32 ac_oth: type: integer format: int32 ac_sas: type: integer format: int32 AlleleFrequency: required: - af - af_afr - af_amr - af_asj - af_eas - af_fin - af_nfe - af_oth - af_sas type: object properties: af: type: number format: double af_afr: type: number format: double af_amr: type: number format: double af_asj: type: number format: double af_eas: type: number format: double af_fin: type: number format: double af_nfe: type: number format: double af_oth: type: number format: double af_sas: type: number format: double AlleleNumber: required: - an - an_afr - an_amr - an_asj - an_eas - an_fin - an_nfe - an_oth - an_sas type: object properties: an: type: integer format: int32 an_afr: type: integer format: int32 an_amr: type: integer format: int32 an_asj: type: integer format: int32 an_eas: type: integer format: int32 an_fin: type: integer format: int32 an_nfe: type: integer format: int32 an_oth: type: integer format: int32 an_sas: type: integer format: int32 Alleles: type: object properties: allele: type: string description: allele ArticleAbstract: type: object properties: abstract: type: string link: type: string Citations: type: object properties: abstracts: type: array items: $ref: '#/components/schemas/ArticleAbstract' pmids: type: array items: type: string ClinVar: type: object properties: alleleId: type: integer description: allele_id format: int32 alt: type: string description: alt chrom: type: string description: chrom cytogenic: type: string description: cytogenic gene: $ref: '#/components/schemas/Gene' hg19: $ref: '#/components/schemas/Hg19' hg38: $ref: '#/components/schemas/Hg38' hgvs: $ref: '#/components/schemas/Hgvs' license: type: string description: license rcv: type: array items: $ref: '#/components/schemas/Rcv' variantId: type: integer description: variant_id format: int32 Clinvar: type: object properties: alternateAllele: type: string chromosome: type: string clinicalSignificance: type: string clinvarId: type: integer format: int32 conflictingClinicalSignificance: type: string endPosition: type: integer format: int32 referenceAllele: type: string startPosition: type: integer format: int32 ClinvarAnnotation: type: object properties: annotation: $ref: '#/components/schemas/Clinvar' ColocatedVariant: required: - gnomad_afr_allele - gnomad_afr_maf - gnomad_eas_allele - gnomad_eas_maf - gnomad_nfe_allele - gnomad_nfe_maf type: object properties: dbSnpId: type: string gnomad_nfe_allele: type: string description: GnomAD Non-Finnish European Allele gnomad_nfe_maf: type: string description: GnomAD Non-Finnish European MAF gnomad_afr_allele: type: string description: GnomAD African/African American Allele gnomad_afr_maf: type: string description: GnomAD African/African American MAF gnomad_eas_allele: type: string description: GnomAD East Asian Allele gnomad_eas_maf: type: string description: GnomAD East Asian MAF Cosmic: type: object properties: alt: type: string description: alt chrom: type: string description: chrom cosmicId: type: string description: cosmic_id hg19: $ref: '#/components/schemas/Hg19' license: type: string description: _license mutFreq: type: number description: mut_freq format: double mutNt: type: string description: mut_nt ref: type: string description: ref tumorSite: type: string description: tumor_site CountByTumorType: type: object properties: tumorType: type: string description: Tumor Type tumorTypeCount: type: integer description: Sample count for Tumor Type format: int32 variantCount: type: integer description: Variant count for Tumor Type format: int32 Dbsnp: type: object properties: _class: type: string description: class alleleOrigin: type: string description: allele_origin alleles: type: array description: alleles items: $ref: '#/components/schemas/Alleles' alt: type: string description: alt chrom: type: string description: chrom dbsnpBuild: type: integer description: dbsnp_build format: int32 flags: type: array description: flags items: type: string hg19: $ref: '#/components/schemas/Hg19' license: type: string description: _license ref: type: string description: ref rsid: type: string description: rsid validated: type: boolean description: validated example: false varSubtype: type: string description: var_subtype vartype: type: string description: vartype Drug: type: object properties: drugName: type: string ncitCode: type: string synonyms: type: array items: type: string uuid: type: string EnsemblFilter: type: object properties: geneIds: type: array description: "List of Ensembl gene IDs. For example [\"ENSG00000136999\"\ , \"ENSG00000272398\", \"ENSG00000198695\"]" items: type: string hugoSymbols: type: array description: "List of Hugo Symbols. For example [\"TP53\", \"PIK3CA\", \"\ BRCA1\"]" items: type: string proteinIds: type: array description: "List of Ensembl protein IDs. For example [\"ENSP00000439985\"\ , \"ENSP00000478460\", \"ENSP00000346196\"]" items: type: string transcriptIds: type: array description: "List of Ensembl transcript IDs. For example [\"ENST00000361390\"\ , \"ENST00000361453\", \"ENST00000361624\"]" items: type: string EnsemblGene: required: - geneId - hugoSymbol type: object properties: geneId: type: string description: Ensembl gene id hugoSymbol: type: string description: Approved Hugo symbol synonyms: type: array description: Hugo symbol synonyms items: type: string previousSymbols: type: array description: Previous Hugo symbols items: type: string entrezGeneId: type: string description: Entrez Gene Id EnsemblTranscript: required: - geneId - proteinId - transcriptId type: object properties: uniprotId: type: string transcriptId: type: string description: Ensembl transcript id geneId: type: string description: Ensembl gene id proteinId: type: string description: Ensembl protein id proteinLength: type: integer description: Length of protein format: int32 pfamDomains: type: array description: Pfam domains items: $ref: '#/components/schemas/PfamDomainRange' hugoSymbols: type: array description: Hugo symbols items: type: string refseqMrnaId: type: string description: RefSeq mRNA ID ccdsId: type: string description: Consensus CDS (CCDS) ID exons: type: array description: Exon information items: $ref: '#/components/schemas/Exon' utrs: type: array description: UTR information items: $ref: '#/components/schemas/UntranslatedRegion' Exon: required: - exonEnd - exonId - exonStart - rank - strand - version type: object properties: exonId: type: string description: Exon id exonStart: type: integer description: Start position of exon format: int32 exonEnd: type: integer description: End position of exon format: int32 rank: type: integer description: Number of exon in transcript format: int32 strand: type: integer description: "Strand exon is on, -1 for - and 1 for +" format: int32 version: type: integer description: Exon version format: int32 Gene: type: object properties: geneId: type: string description: geneid symbol: type: string description: symbol GeneXref: required: - db_display_name - dbname - description - display_id - primary_id - version type: object properties: db_display_name: type: string description: Database display name dbname: type: string description: Database name description: type: string description: Description display_id: type: string description: Display id ensemblGeneId: type: string info_text: type: string description: Database info text info_types: type: string description: Database info type primary_id: type: string description: Primary id synonyms: type: array description: Synonyms items: type: string version: type: string description: Version GeneralPopulationStats: type: object properties: counts: $ref: '#/components/schemas/SignalPopulationStats' frequencies: $ref: '#/components/schemas/SignalPopulationStats' GenomicLocation: required: - chromosome - end - referenceAllele - start - variantAllele type: object properties: chromosome: type: string description: Chromosome start: type: integer description: Start Position format: int32 end: type: integer description: End Position format: int32 referenceAllele: type: string description: Reference Allele variantAllele: type: string description: Variant Allele Gnomad: type: object properties: alleleCount: $ref: '#/components/schemas/AlleleCount' alleleFrequency: $ref: '#/components/schemas/AlleleFrequency' alleleNumber: $ref: '#/components/schemas/AlleleNumber' homozygotes: $ref: '#/components/schemas/Homozygotes' Hg19: type: object properties: end: type: integer description: end format: int32 start: type: integer description: start format: int32 Hg38: type: object properties: end: type: string description: end start: type: string description: start Hgvs: type: object properties: coding: type: array items: type: string genomic: type: array items: type: string Homozygotes: required: - hom - hom_afr - hom_amr - hom_asj - hom_eas - hom_fin - hom_nfe - hom_oth - hom_sas type: object properties: hom: type: integer format: int32 hom_afr: type: integer format: int32 hom_amr: type: integer format: int32 hom_asj: type: integer format: int32 hom_eas: type: integer format: int32 hom_fin: type: integer format: int32 hom_nfe: type: integer format: int32 hom_oth: type: integer format: int32 hom_sas: type: integer format: int32 Hotspot: type: object properties: hugoSymbol: type: string description: Hugo gene symbol inframeCount: type: integer description: Inframe mutation count format: int32 missenseCount: type: integer description: Missense mutation count format: int32 residue: type: string description: Hotspot residue spliceCount: type: integer description: Splice mutation count format: int32 transcriptId: type: string description: Ensembl Transcript Id truncatingCount: type: integer description: Truncation mutation count format: int32 tumorCount: type: integer description: Tumor count format: int32 type: type: string description: Hotspot type HotspotAnnotation: type: object properties: annotation: type: array items: type: array items: $ref: '#/components/schemas/Hotspot' license: type: string HrdScore: type: object properties: fractionLoh: type: number description: Median HRD Fraction LOH format: double lst: type: number description: Median HRD LST format: double ntelomericAi: type: number description: Median HRD ntelomeric AI format: double Implication: type: object properties: alterations: type: array items: type: string description: type: string levelOfEvidence: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" tumorType: $ref: '#/components/schemas/TumorType' IndicatorQueryResp: type: object properties: alleleExist: type: boolean example: false dataVersion: type: string diagnosticImplications: type: array items: $ref: '#/components/schemas/Implication' diagnosticSummary: type: string geneExist: type: boolean example: false geneSummary: type: string highestDiagnosticImplicationLevel: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" highestPrognosticImplicationLevel: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" highestResistanceLevel: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" highestSensitiveLevel: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" hotspot: type: boolean example: false lastUpdate: type: string mutationEffect: $ref: '#/components/schemas/MutationEffectResp' oncogenic: type: string otherSignificantResistanceLevels: type: array items: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" otherSignificantSensitiveLevels: type: array items: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" prognosticImplications: type: array items: $ref: '#/components/schemas/Implication' prognosticSummary: type: string query: $ref: '#/components/schemas/Query' treatments: type: array items: $ref: '#/components/schemas/IndicatorQueryTreatment' tumorTypeSummary: type: string variantExist: type: boolean example: false variantSummary: type: string vus: type: boolean example: false IndicatorQueryTreatment: type: object properties: abstracts: type: array items: $ref: '#/components/schemas/ArticleAbstract' alterations: type: array items: type: string approvedIndications: type: array items: type: string description: type: string drugs: type: array items: $ref: '#/components/schemas/Drug' fdaApproved: type: boolean example: false level: type: string enum: - LEVEL_0 - LEVEL_1 - LEVEL_2 - LEVEL_2A - LEVEL_2B - LEVEL_3A - LEVEL_3B - LEVEL_4 - LEVEL_R1 - LEVEL_R2 - LEVEL_R3 - LEVEL_Px1 - LEVEL_Px2 - LEVEL_Px3 - LEVEL_Dx1 - LEVEL_Dx2 - LEVEL_Dx3 - "NO" levelAssociatedCancerType: $ref: '#/components/schemas/TumorType' pmids: type: array items: type: string IntegerRange: type: object properties: end: type: integer format: int32 start: type: integer format: int32 IntergenicConsequences: required: - consequenceTerms - impact - variantAllele type: object properties: impact: type: string description: impact variantAllele: type: string description: variant_allele consequenceTerms: type: array description: consequence_terms items: type: string MainType: type: object properties: id: type: integer format: int32 name: type: string tumorForm: type: string enum: - SOLID - LIQUID description: OncoTree Cancer Type MutationAssessor: required: - input type: object properties: codonStartPosition: type: string description: Codon start position cosmicCount: type: integer description: Number of mutations in COSMIC for this protein format: int32 functionalImpact: type: string description: Functional impact functionalImpactScore: type: number description: Functional impact score format: double hgvs: type: string hugoSymbol: type: string description: Hugo gene symbol input: type: string description: User-input variants mappingIssue: type: string description: Mapping issue info msaGaps: type: number description: Portion of gaps in variant position in multiple sequence alignment format: double msaHeight: type: integer description: Number of diverse sequences in multiple sequence alignment (identical or highly similar sequences filtered out) format: int32 msaLink: type: string description: Link to multiple sequence alignment pdbLink: type: string description: Link to 3d structure browser referenceGenomeVariant: type: string description: Reference genome variant referenceGenomeVariantType: type: string description: Reference genome variant type refseqId: type: string description: Refseq protein ID refseqPosition: type: integer description: "Variant position in Refseq protein, can be different from\ \ the one in Uniprot" format: int32 refseqResidue: type: string description: "Reference residue in Refseq protein, can be different from\ \ the one in Uniprot" snpCount: type: integer description: Number of SNPs in dbSNP for this protein format: int32 uniprotId: type: string description: Uniprot protein accession ID uniprotPosition: type: integer description: "Variant position in Uniprot protein, can be different from\ \ the one in Refseq" format: int32 uniprotResidue: type: string description: "Reference residue in Uniprot protein, can be different from\ \ the one in Refseq" variant: type: string description: Amino acid substitution variantConservationScore: type: number description: Variant conservation score format: double variantSpecificityScore: type: number description: Variant specificity score format: double MutationAssessorAnnotation: type: object properties: annotation: $ref: '#/components/schemas/MutationAssessor' license: type: string MutationEffectResp: type: object properties: citations: $ref: '#/components/schemas/Citations' description: type: string knownEffect: type: string Mutdb: type: object properties: alt: type: string description: alt chrom: type: string description: chrom cosmicId: type: string description: cosmic_id hg19: $ref: '#/components/schemas/Hg19' mutpredScore: type: number description: mutpred_score format: double ref: type: string description: ref rsid: type: string description: rsid uniprotId: type: string description: uniprot_id MyVariantInfo: type: object properties: clinVar: $ref: '#/components/schemas/ClinVar' cosmic: $ref: '#/components/schemas/Cosmic' dbsnp: $ref: '#/components/schemas/Dbsnp' gnomadExome: $ref: '#/components/schemas/Gnomad' gnomadGenome: $ref: '#/components/schemas/Gnomad' hgvs: type: string description: hgvs mutdb: $ref: '#/components/schemas/Mutdb' query: type: string snpeff: $ref: '#/components/schemas/Snpeff' variant: type: string description: variant vcf: $ref: '#/components/schemas/Vcf' version: type: integer description: version format: int32 MyVariantInfoAnnotation: type: object properties: annotation: $ref: '#/components/schemas/MyVariantInfo' license: type: string NucleotideContext: required: - seq type: object properties: hgvs: type: string id: type: string molecule: type: string query: type: string seq: type: string description: Nucleotide context sequence NucleotideContextAnnotation: type: object properties: annotation: $ref: '#/components/schemas/NucleotideContext' license: type: string OncokbAnnotation: type: object properties: annotation: $ref: '#/components/schemas/IndicatorQueryResp' license: type: string PdbHeader: required: - pdbId - title type: object properties: compound: type: object properties: {} pdbId: type: string description: PDB id source: type: object properties: {} title: type: string description: PDB description PfamDomain: required: - name - pfamAccession type: object properties: description: type: string description: PFAM domain description name: type: string description: PFAM domain name pfamAccession: type: string description: PFAM domain accession PfamDomainRange: required: - pfamDomainEnd - pfamDomainId - pfamDomainStart type: object properties: pfamDomainId: type: string description: Pfam domain id pfamDomainStart: type: integer description: Pfam domain start amino acid format: int32 pfamDomainEnd: type: integer description: Pfam domain end amino acid format: int32 PostTranslationalModification: type: object properties: ensemblTranscriptIds: type: array items: type: string position: type: integer format: int32 pubmedIds: type: array items: type: string sequence: type: string type: type: string uniprotAccession: type: string uniprotEntry: type: string PtmAnnotation: type: object properties: annotation: type: array items: type: array items: $ref: '#/components/schemas/PostTranslationalModification' license: type: string PtmFilter: type: object properties: transcriptIds: type: array description: "List of Ensembl transcript IDs. For example [\"ENST00000361390\"\ , \"ENST00000361453\", \"ENST00000361624\"]" items: type: string Query: type: object properties: alteration: type: string alterationType: type: string consequence: type: string entrezGeneId: type: integer format: int32 hgvs: type: string hugoSymbol: type: string id: type: string proteinEnd: type: integer format: int32 proteinStart: type: integer format: int32 svType: type: string enum: - DELETION - TRANSLOCATION - DUPLICATION - INSERTION - INVERSION - FUSION - UNKNOWN tumorType: type: string type: type: string Rcv: type: object properties: accession: type: string description: accession clinicalSignificance: type: string description: clinical_significance origin: type: string description: origin preferredName: type: string description: preferred_name SignalAnnotation: type: object properties: annotation: type: array items: $ref: '#/components/schemas/SignalMutation' license: type: string SignalMutation: type: object properties: biallelicCountsByTumorType: type: array description: Biallelic Counts by Tumor Type items: $ref: '#/components/schemas/CountByTumorType' chromosome: type: string description: Chromosome countsByTumorType: type: array description: Counts by Tumor Type items: $ref: '#/components/schemas/CountByTumorType' endPosition: type: integer description: End Position format: int64 generalPopulationStats: $ref: '#/components/schemas/GeneralPopulationStats' hugoGeneSymbol: type: string description: Hugo Gene Symbol mskExperReview: type: boolean description: Msk Expert Review example: false mutationStatus: type: string description: Mutation Status overallNumberOfGermlineHomozygous: type: integer format: int32 pathogenic: type: string description: Pathogenic penetrance: type: string description: Penetrance qcPassCountsByTumorType: type: array description: QC Pass Counts by Tumor Type items: $ref: '#/components/schemas/CountByTumorType' referenceAllele: type: string description: Reference Allele startPosition: type: integer description: Start Position format: int64 statsByTumorType: type: array description: Stats By Tumor Type items: $ref: '#/components/schemas/StatsByTumorType' variantAllele: type: string description: Variant Allele SignalPopulationStats: type: object properties: afr: type: number description: African/African American format: double asj: type: number description: Ashkenazi Jewish format: double asn: type: number description: Asian format: double eur: type: number description: European format: double impact: type: number description: Impact format: double oth: type: number description: Other format: double Snpeff: type: object properties: license: type: string description: license StatsByTumorType: type: object properties: ageAtDx: type: integer description: Median Age at Dx format: int32 fBiallelic: type: number description: Frequency Of Biallelic format: double fCancerTypeCount: type: number description: Frequency Of Cancer Type Count format: double hrdScore: $ref: '#/components/schemas/HrdScore' msiScore: type: number description: Msi Score format: double nCancerTypeCount: type: integer description: Number Of Cancer Type Count format: int32 numberOfGermlineHomozygous: type: integer description: Number Of Germline Homozygous Per Tumor Type format: int32 numberWithSig: type: integer description: Number of Variants with Signature format: int32 tmb: type: number description: Median TMB format: double tumorType: type: string description: Tumor Type TranscriptConsequence: required: - transcript_id type: object properties: amino_acids: type: string description: Amino acids canonical: type: string description: Canonical transcript indicator codons: type: string description: Codons consequence_terms: type: array description: List of consequence terms items: type: string exon: type: string gene_id: type: string description: Ensembl gene id gene_symbol: type: string description: Hugo gene symbol hgnc_id: type: string description: HGNC id hgvsc: type: string description: HGVSc hgvsg: type: string description: HGVSg hgvsp: type: string description: HGVSp polyphen_prediction: type: string description: Polyphen Prediction polyphen_score: type: number description: Polyphen Score format: double protein_end: type: integer description: Protein end position format: int32 protein_id: type: string description: Ensembl protein id protein_start: type: integer description: Protein start position format: int32 refseq_transcript_ids: type: array description: List of RefSeq transcript ids items: type: string sift_prediction: type: string description: Sift Prediction sift_score: type: number description: Sift Score format: double transcript_id: type: string description: Ensembl transcript id uniprotId: type: string variant_allele: type: string description: Variant allele TranscriptConsequenceSummary: required: - transcriptId type: object properties: aminoAcidAlt: type: string description: Alt Amino Acid aminoAcidRef: type: string description: Reference Amino Acid aminoAcids: type: string description: Amino acids change codonChange: type: string description: Codon change consequenceTerms: type: string description: Consequence terms (comma separated) entrezGeneId: type: string description: Entrez gene id exon: type: string hgvsc: type: string description: HGVSc hgvsp: type: string description: HGVSp hgvspShort: type: string description: HGVSp short hugoGeneSymbol: type: string description: Hugo gene symbol polyphenPrediction: type: string description: Polyphen Prediction polyphenScore: type: number description: Polyphen Score format: double proteinPosition: $ref: '#/components/schemas/IntegerRange' refSeq: type: string description: RefSeq id siftPrediction: type: string description: Sift Prediction siftScore: type: number description: Sift Score format: double transcriptId: type: string description: Transcript id uniprotId: type: string description: Uniprot ID variantClassification: type: string description: Variant classification TumorType: type: object properties: children: type: object properties: {} code: type: string color: type: string id: type: integer format: int32 level: type: integer format: int32 mainType: $ref: '#/components/schemas/MainType' name: type: string parent: type: string tissue: type: string tumorForm: type: string enum: - SOLID - LIQUID description: OncoTree Detailed Cancer Type UntranslatedRegion: required: - end - start - strand - type type: object properties: type: type: string description: UTR Type start: type: integer description: Start position of UTR format: int32 end: type: integer description: End position of UTR format: int32 strand: type: integer description: "Strand UTR is on, -1 for - and 1 for +" format: int32 VariantAnnotation: required: - id - intergenic_consequences - originalVariantQuery - variant type: object properties: allele_string: type: string description: "Allele string (e.g: A/T)" annotationJSON: type: string description: Annotation data as JSON string annotation_summary: $ref: '#/components/schemas/VariantAnnotationSummary' assembly_name: type: string description: NCBI build number clinvar: $ref: '#/components/schemas/ClinvarAnnotation' colocatedVariants: type: array items: $ref: '#/components/schemas/ColocatedVariant' end: type: integer description: End position format: int32 hgvsg: type: string hotspots: $ref: '#/components/schemas/HotspotAnnotation' id: type: string description: Variant id intergenic_consequences: type: array description: intergenicConsequences items: $ref: '#/components/schemas/IntergenicConsequences' most_severe_consequence: type: string description: Most severe consequence mutation_assessor: $ref: '#/components/schemas/MutationAssessorAnnotation' my_variant_info: $ref: '#/components/schemas/MyVariantInfoAnnotation' nucleotide_context: $ref: '#/components/schemas/NucleotideContextAnnotation' oncokb: $ref: '#/components/schemas/OncokbAnnotation' originalVariantQuery: type: string description: Original variant query ptms: $ref: '#/components/schemas/PtmAnnotation' seq_region_name: type: string description: Chromosome signalAnnotation: $ref: '#/components/schemas/SignalAnnotation' start: type: integer description: Start position format: int32 strand: type: integer description: Strand (negative or positive) format: int32 successfully_annotated: type: boolean description: Status flag indicating whether variant was succesfully annotated example: false transcript_consequences: type: array description: List of transcripts items: $ref: '#/components/schemas/TranscriptConsequence' variant: type: string description: Variant key VariantAnnotationSummary: required: - transcriptConsequenceSummaries - transcriptConsequenceSummary - transcriptConsequences - variant type: object properties: assemblyName: type: string description: Assembly name canonicalTranscriptId: type: string description: Canonical transcript id genomicLocation: $ref: '#/components/schemas/GenomicLocation' strandSign: type: string description: Strand (- or +) transcriptConsequenceSummaries: type: array description: All transcript consequence summaries items: $ref: '#/components/schemas/TranscriptConsequenceSummary' transcriptConsequenceSummary: $ref: '#/components/schemas/TranscriptConsequenceSummary' transcriptConsequences: type: array description: "(Deprecated) Transcript consequence summaries (list of one\ \ when using annotation/, multiple when using annotation/summary/" items: $ref: '#/components/schemas/TranscriptConsequenceSummary' variant: type: string description: Variant key variantType: type: string description: Variant type Vcf: type: object properties: alt: type: string description: alt position: type: string description: position ref: type: string description: ref Version: type: object properties: version: type: string x-original-swagger-version: "2.0"