MyVariant.info

Variant Annotation as a Service

MyVariant.info

Variant Annotation as a Service

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Who is using MyVariant.info

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and many more!

High performance

Fast API access to up-to-date human variant annotations

Up-to-date

Monthly updated variant annotations from 18 sources.

Pre-integrated

Variant annotations for >400M human variants are pre-integrated.

Simple to use

Just two end-points to retrieve annotations via HGVS IDs or any query term.

  • Query Examples 206-780-2001

    All queries work on both Http and Https!

  • Retrieving by HGVS id


    GET /myvariant.info/v1/variant/chr7:g.55241707G>T

  • All variants with clinvar annotation


    GET /myvariant.info/v1/query/?q=_exists_:clinvar

  • All non-synonymous variants on gene "BTK"


    GET /myvariant.info/v1/query/?q=dbnsfp.genename:BTK

  • All variants within a genomic range


    GET /myvariant.info/v1/query/?q=chr1:69000-70000

  • Query Wellderly variants together with other annotation sources


    GET /myvariant.info/v1/query/?q=_exists_:wellderly AND cadd.polyphen.cat:possibly_damaging&fields=wellderly,cadd.polyphen

  • Get data source metadata:


    GET /myvariant.info/metadata

  • Get the list of all fields:


    GET /myvariant.info/metadata/fields

  • Batch queries? Yes, supported!


    POST /myvariant.info/v1/variant/ 8504499245
    POST /myvariant.info/v1/query/

Query Examples

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Description Query

Retreiving by HGVS id

 GET /myvariant.info/v1/variant/chr1:g.35367G>A

All variants with dbNSFP annotation

GET /myvariant.info/v1/query/?q=_exists_:dbnsfp

All non-synonymous variants on gene "BTK"

GET /myvariant.info/v1/query/?q=dbnsfp.genename:BTK

All variants within a genomic range

GET /myvariant.info/v1/query/?q=chr1:69000-70000

Query Wellderly variants together with other annotation sources

GET /myvariant.info/v1/query/?q=_exists_:wellderly AND cadd.polyphen.cat:possibly_damaging&fields=wellderly,cadd.polyphen

Batch queries? Yes, supported!

 POST /myvariant.info/v1/variant/
POST /myvariant.info/v1/query/
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Medical Disclaimer: This resource is intended for purely research purposes. It should not be used for emergencies or medical or professional advice.

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