MyVariant.info documentation

Introduction

myvariant.info

MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data. It’s designed with an emphasis on simplicity and performance.

Quick start

MyVariant.info provides two simple web services: one for variant queries and the other for variant annotation retrieval. Both return results in JSON format.

Variant query service

URL

http://myvariant.info/v1/query

Examples

http://myvariant.info/v1/query?q=rs58991260
http://myvariant.info/v1/query?q=chr1:69000-70000
http://myvariant.info/v1/query?q=dbsnp.vartype:snp
http://myvariant.info/v1/query?q=_exists_:dbsnp  AND NOT dbsnp.vartype:indel
http://myvariant.info/v1/query?q=dbnsfp.polyphen2.hdiv.score:>0.99 AND chrom:1
http://myvariant.info/v1/query?q=cadd.gene.gene_id:ENSG00000113368&facets=cadd.polyphen.cat&size=0
http://myvariant.info/v1/query?q=_exists_:dbsnp AND _exists_:cosmic

Hint

View nicely formatted JSON result in your browser with this handy add-on: JSON formater for Chrome or JSONView for Firefox.

To learn more

Variant annotation service

URL

http://myvariant.info/v1/variant/<variant_id>

<variant_id>” is an HGVS name based variant id using genomic location based on hg19 human genome assembly..

Examples

http://myvariant.info/v1/variant/chr1:g.35367G>A
http://myvariant.info/v1/variant/chr7:g.55241707G>T
http://myvariant.info/v1/variant/chr9:g.107620835G>A
http://myvariant.info/v1/variant/chr1:g.160145907G>T
http://myvariant.info/v1/variant/chr16:g.28883241A>G
http://myvariant.info/v1/variant/chr3:g.49721532G>A

To learn more