VarSome

VarSome is a search engine, aggregator and impact analysis tool for human genetic variation and a community-driven project aiming at sharing global expertise on human variants. It renders and displays a detailed annotation of the queried variant, including multiple notations, predicted pathogenicity status from a variety of tools, genomic context, as well as information from 100+ public and commercial databases. It allows users to mark the pathogenicity of variants and to link variants to specific phenotypes, diseases and publications. Finally, it provides an automated pathogenicity assessment consistent with the widely accepted ACMG guidelines. It therefore provides a powerful analysis resource as well as a repository for the accumulated global knowledge of the genomics community. From a technical point of view, it allows convenient programmable single-point interface for accessing all its data.