VarSome enables the interpretation of a wide range of SVs, including deletions, duplications, insertions, inversions, translocations, CNVs, and repeat expansions. The platform is compatible with short- and long-read sequencing data, ensuring flexibility across technologies and datasets. By unifying these variant types in a single framework, VarSome supports consistent annotation and interpretation without needing separate tools for different variant types. 

For CNVs, VarSome implements the ACMG/ClinGen guidelines to provide structured, transparent classifications. For other SVs, where formal guidelines are not yet established, VarSome supports interpretation through a massive molecularDB, community-driven annotations, and live literature links. This combination helps users ground their classifications in both established standards and the latest available evidence.

VarSome consolidates annotations from key SV resources, including gnomAD-SV, DGV, DECIPHER, dbVAR, and other curated datasets. These are combined with VarSome's MolecularDB and expert curation team, helping to link SVs to gene function, phenotype associations, and relevant literature. Phenotype-driven filters help connect variants to patient presentation, streamlining the search for clinically meaningful variants. 

VarSome helps reveal the biological context of SVs, assessing the potential impact at the gene, exon, and regulatory region level. Each variant is linked to pathway information, disease associations, and functional annotations, helping users understand the local consequences of a variant and its possible role in broader molecular mechanisms.

VarSome provides interactive genome and region browsers to explore SV breakpoints and their affected regions. Users can examine gene disruptions, overlaps with regulatory regions, and supporting evidence in a clear, intuitive interface. The Sample View allows variants to be seen directly in their genetic context, while at-a-glance summaries highlight relevant findings for clinical reporting. 

VarSome offers flexible deployment options, available as secure cloud environments in Switzerland (Saphetor), the EU (Germany, Google Cloud Platform), the USA (Google Cloud Platform), and the UAE (AWS), or as on-premises deployments to meet specific technical and regulatory needs. Once deployed, the platform supports analysis at any scale, from single samples to large cohorts. 

VarSome also offers engine integration via our API, allowing laboratories to integrate VarSome directly into their existing pipelines, ensuring consistent, reproducible interpretation across workflows.

VarSome combines community annotations with expert-curated insights, creating a shared resource that grows with every contribution. Each annotation and classification is knowledge-driven and fully explained, with clear evidence for how rules and data sources are applied. This helps ensure that results are transparent and reproducible, never hidden in a black box.