VarSome

VarSome is a community-driven project for sharing global expertise on human variants. Our cross-referenced knowledge base integrates more than 140 genomic data sources, with input from over 500 000 users worldwide.

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  • Introduction

    VarSome brings together a powerful set of tools for variant annotation, classification, and interpretation, designed for both research and clinical use. Whether you’re exploring individual variants, managing diagnostic workflows, or scaling up with programmatic access, each product is powered by the same high-performance annotation engine and continuously updated knowledge base.

    VarSome aims to empower researchers, clinicians, and bioinformaticians to interpret genetic data with clarity, consistency, and confidence. By combining comprehensive variant annotation, standard-based classification, and collaborative features, their tools help users find, share, and apply genomic knowledge to support better decisions, drive discovery, and improve health outcomes worldwide.

    VarSome Premium

    VarSome Premium is an advanced genomic variant search and interpretation platform. It integrates curated public resources, proprietary datasets, literature references, and population frequency data, offering powerful in-silico predictions. It supports SNVs, indels, CNVs, and structural variants with customizable automated ACMG/AMP classifications.

    VarSome Clinical

    VarSome Clinical is a CE-IVDR Class C platform for clinical genetic testing workflows. It offers automated variant annotation and classification, supports germline and somatic pipelines, and offers various dynamic and algorithmic filters. Designed for diagnostics labs, it includes collaborative features, custom report templates, and deployment flexibility.

    VarSome API

    VarSome API enables programmatic access to VarSome’s annotation engine. It supports high-throughput variant processing, returns ACMG/AMP-based classifications, and includes batch annotation and filtering tools. Designed for integration into bioinformatics pipelines, LIMS, or custom software, it offers scalable performance and flexible pricing options.


    Why choose VarSome?

    • free search engine and community platform for exploring human genetic variants. It provides access to curated data, interpretation support based on ACMG guidelines, and user-contributed insights, helping researchers and clinicians make sense of complex genomic information.
    • Has a worldwide community of over 500 000 healthcare and life sciences professionals, who classify, link research findings and publications, and share evidence on variants.
    • Comprehensive Genomic Data Coverage: Offers a massive, cross- referenced knowledge base of 140+ data sources, representing over 33 billion data points.
    • Automated Variant Classification: Provides automated germline variant classification based on the guidelines of the American College of Medical Genetics and Genomics (Richards et al. 2015).
    • Versatile Variant Search: You can search by HGVS nomenclature, rsID, gene name, transcript symbol, or genomic location.
    • Full Text Search: You can query VarSome’s knowledge base with plain text descriptions, making it easy to find what you're looking for. It allows you to perform targeted searches of the entire contents to find articles, diseases, phenotypes, genes, and more.
    • Application Programming Interface (API): Gives you direct access to our interpretation engine, combining rich data integration with fast, flexible annotation.

    Description

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