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"