This is a project coming out of 1st NoB Hackathon.
The scope of this project is to aggregate existing annotations for genetic variants. Variant annotations have drawn huge amount of efforts from researchers, which made many variant annotation resources available, but also very scattered. Doing integration of all of them is hard, so we want to create a simple way to pool them together first, with high-performance programmatic access. That way, the further integration (e.g. deduplication, deriving higher-level annotations, etc) can be much easier.
Code repo: https://github.com/SuLab/myvariant.info
query for any supported id (currently rsid, will include more as we go)
query for a genomic range
query for one or more fields
support wild char
support regex
boolean query (AND, OR, NOT)
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
faceting
http://myvariant.info/v1/query?q=cadd.gene.gene_id:ENSG00000113368&facets=cadd.polyphen.cat&size=0
field exists
http://myvariant.info/v1/query?q=_exists_:dbsnp AND _exists_:cosmic