The proposal to develop MyGene.info and MyVariant.info into to a community-knowledge aggregation platform has been funded as one of the four projects to receive a Data Wrangling Award. Data Wrangling is one of four specific areas of need identified and funded as part of the BD2K initiative’s aims for Targeted Software Development.
As an up-to-date gene annotation query service, MyGene.info API already handles over 2.5 million queries/month for researchers around the world. Building on the success of MyGene.info, we have now launched MyVariant.info, an equivalent service for up-to-date annotations on variants. Whether you want to retrieve annotations for observed variants (using genomic-based HGVS names), or query for known variants matching your criteria (e.g. those associated with genes, diseases), MyVariant.info allows you to do this and more. Use MyVariant.info to make queries across multiple annotation types.
Currently, MyVariant.info already includes annotations of over 280 million variants from twelve data sources, including popular dbNSFP, ClinVar, EVS, COSMIC, and dbSNP. And we are continuing expanding our coverage of variant annotations, e.g. ExAC data will soon be available from MyVariant.info.
— Chunlei Wu (@chunleiwu) June 2, 2015