Varsome

The Genomics Community

VarSome is our way of contributing to life sciences research. It is a community of 80'000 users from 160 countries who share their findings and expertise and look to establish collaborations. We contribute an always-improving search engine and knowledgebase of public human genomics-related data.

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Features of VarSome

30+ Genomic Databases

VarSome offers a massive cross-referenced knowledge base consisting of 30+ public genomic databases, representing over 33 billion data points. But there is more to it: whenever a public database is updated, we process it and make it available to the whole genomics community for annotation and classification!

Integrated resources: ClinVar, dbSNP, gnomAD, HPO, MONDO, Ensembl, RefSeq, GWAS, CGD, HGNC, UniGene, Orphanet, CIViC genes, GERP, dbNSFP, COSMIC, IARC TP53, ICGC, Kaviar, DANN scores, CIViC mutations, UniProt variants, UniProt domains, GHR, CPIC, DGV, DECIPHER, ExAC CNVs, ExAC genes, PanelApp, Mondo.

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ACMG Classification

In addition to the ClinVar pathogenicity classification, VarSome also displays automated variant classification according to the guidelines of the American College of Medical Genetics and Genomics (Richards et al. 2015). Each ACMG rule is explained, along with why it has been triggered, or why not. If you have some additional evidence, you can manually trigger other ACMG rules and easily reach the final verdict for your variant.

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Full-text Search

VarSome full text search functions like other search engines with one important difference: the search query returns only entries from the VarSome aggregated knowledge base, thus not showing you any results from non-life sciences domains. It enables you to perform targeted searches not just for variants, but over the entire contents of VarSome, such as articles, diseases, phenotypes, genes, etc. Importantly, this includes content provided by the entire VarSome user global community of tens of thousands of users.

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Community

Backed by our life sciences and engineering teams, VarSome is a community-driven project aiming at sharing global expertise on human variants. Community members classify, link research findings and publications, and provide evidence on variants. This helps create a unique resource, benefiting everyone.

VarSome facilitates introductions between users who wish to exchange notes on search results, without compromising our strict privacy policy.

VarSome has a community of over 80'000 life sciences professionals worldwide.

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VarSome API (Programming Interface)

VarSome provides a powerful API which allows you to integrate VarSome knowledge base into your own project for variant annotation and classification. This service is subject to fees.

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Cite VarSome!

VarSome: The Human Genomic Variant Search Engine. Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, and Andreas Massouras. Oxford Bioinformatics, bty897, 30 October 2018. doi: https://doi.org/10.1093/bioinformatics/bty897

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Use VarSome for FREE!

Open and public data on VarSome free of charge for research.