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.
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.
More about ACMG Classification
Versatile Variant Search
You can search VarSome by gene name, transcript symbol, genomic location, rs id, or HGVS nomenclature. VarSome can also parse single lines from VCF files to look up the variant they describe. The results are not limited to known variants, you can query any possible variant.
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.
More about Full Text Search
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.
Learn more about VarSome API
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
Read the VarSome paper