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openapi: '3.0.0' | |
info: | |
version: '1.0' | |
title: MyVariant.info API | |
description: >- | |
Documentation of the MyVariant.info Variant Query web services. Learn more about | |
[MyVariant.info](http://myvariant.info/) | |
termsOfService: http://myvariant.info/terms/ | |
contact: | |
name: Chunlei Wu | |
x-role: responsible developer | |
email: help@myvariant.info | |
x-id: 'https://github.com/newgene' | |
x-translator: | |
component: KP | |
team: | |
- Service Provider | |
servers: | |
- url: 'http://myvariant.info/v1' | |
description: 'Production server' | |
tags: | |
- name: variant | |
- name: annotation | |
- name: query | |
- name: translator | |
paths: | |
/query: | |
get: | |
summary: 'Make variant query and return matching variant hits' | |
parameters: | |
- name: q | |
in: query | |
description: >- | |
Query string. Examples "rs752396467", "possibly_damaging", "CDK7". | |
required: true | |
x-valueType: | |
- 'http://identifiers.org/hgnc.symbol/' | |
- 'http://identifiers.org/dbsnp/' | |
- 'http://identifiers.org/ensembl.gene/' | |
- 'http://identifiers.org/ensembl.transcript/' | |
- 'http://identifiers.org/ensembl.protein/' | |
- 'http://identifiers.org/ccds/' | |
- 'http://identifiers.org/uniprot/' | |
- 'http://identifiers.org/clinvar/' | |
- 'http://identifiers.org/omim/' | |
- 'http://identifiers.org/efo/' | |
- 'http://identifiers.org/orphanet/' | |
- 'http://identifiers.org/hgnc/' | |
- 'http://identifiers.org/pubmed/' | |
- 'http://identifiers.org/refseq/' | |
- 'http://identifiers.org/clinicalsignificance/' | |
schema: | |
type: string | |
responses: | |
'200': | |
description: 'A query response object with "hits" property' | |
x-responseValueType: | |
- path: _id | |
valueType: 'http://identifiers.org/hgvs/' | |
- path: cadd.gene.genename | |
valueType: 'http://identifiers.org/hgnc.symbol/' | |
- path: clinvar.rsid | |
valueType: 'http://identifiers.org/dbsnp/' | |
- path: cadd.gene.gene_id | |
valueType: 'http://identifiers.org/ensembl.gene/' | |
- path: cadd.gene.feature_id | |
valueType: 'http://identifiers.org/ensembl.transcript/' | |
- path: cadd.gene.ccds_id | |
valueType: 'http://identifiers.org/ccds/' | |
- path: clinvar.uniprot | |
valueType: 'http://identifiers.org/uniprot/' | |
- path: clinvar.omim | |
valueType: 'http://identifiers.org/omim/' | |
- path: clinvar.rcv.accession | |
valueType: 'http://identifiers.org/clinvar/' | |
- path: clinvar.rcv.conditions.identifiers.omim | |
valueType: 'http://identifiers.org/omim/' | |
- path: clinvar.rcv.conditions.identifiers.efo | |
valueType: 'http://identifiers.org/efo/' | |
- path: clinvar.rcv.conditions.identifiers.orphanet | |
valueType: 'http://identifiers.org/orphanet/' | |
- path: clinvar.gene.id | |
valueType: 'http://identifiers.org/hgnc/' | |
- path: dbnsfp.ensembl.proteinid | |
valueType: 'http://identifiers.org/ensembl.protein/' | |
- path: docm.pubmed_id | |
valueType: 'http://identifiers.org/pubmed/' | |
- path: evs.gene.accession | |
valueType: 'http://identifiers.org/refseq/' | |
- path: clinvar.rcv.clinical_significance | |
valueType: 'http://identifiers.org/clinicalsignificance/' | |
x-JSONLDContext: | |
https://github.com/NCATS-Tangerine/translator-api-registry/blob/master/myvariant.info/jsonld_context/myvariant_context.json | |
'/variant/{variantid}': | |
get: | |
summary: 'For a given variant id, return the matching variant object' | |
parameters: | |
- name: variantid | |
in: path | |
description: >- | |
Variant HGVS ID, dbSNP ID | |
required: true | |
x-valueType: | |
- 'http://identifiers.org/hgvs/' | |
- 'http://identifiers.org/dbsnp/' | |
schema: | |
type: string | |
responses: | |
'200': | |
description: 'A variant object' | |
x-responseValueType: | |
- path: cadd.gene.genename | |
valueType: 'http://identifiers.org/hgnc.symbol/' | |
- path: clinvar.rsid | |
valueType: 'http://identifiers.org/dbsnp/' | |
- path: cadd.gene.gene_id | |
valueType: 'http://identifiers.org/ensembl.gene/' | |
- path: cadd.gene.feature_id | |
valueType: 'http://identifiers.org/ensembl.transcript/' | |
- path: cadd.gene.ccds_id | |
valueType: 'http://identifiers.org/ccds/' | |
- path: clinvar.uniprot | |
valueType: 'http://identifiers.org/uniprot/' | |
- path: clinvar.rcv.accession | |
valueType: 'http://identifiers.org/clinvar/' | |
- path: clinvar.rcv.conditions.identifiers.omim | |
valueType: 'http://identifiers.org/omim/' | |
- path: clinvar.rcv.conditions.identifiers.efo | |
valueType: 'http://identifiers.org/efo/' | |
- path: clinvar.rcv.conditions.identifiers.orphanet | |
valueType: 'http://identifiers.org/orphanet/' | |
- path: clinvar.gene.id | |
valueType: 'http://identifiers.org/hgnc/' | |
- path: dbnsfp.ensembl.proteinid | |
valueType: 'http://identifiers.org/ensembl.protein/' | |
- path: docm.pubmed_id | |
valueType: 'http://identifiers.org/pubmed/' | |
- path: evs.gene.accession | |
valueType: 'http://identifiers.org/refseq/' | |
- path: clinvar.rcv.clinical_significance | |
valueType: 'http://identifiers.org/clinicalsignificance/' | |
x-JSONLDContext: | |
'https://github.com/NCATS-Tangerine/translator-api-registry/blob/master/myvariant.info/jsonld_context/myvariant_context.json' |