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Introduction

VarLens is a desktop application for offline genetic variant analysis. It is designed for research collaborators who need to analyze variant data securely on their own machines, without uploading data to external servers.

Who is VarLens for?

  • Genetic diagnostics labs analyzing patient variant data
  • Research collaborators receiving variant datasets for review
  • Bioinformaticians who need a quick visual interface for variant files

Key Capabilities

  • Import variant data from JSON files (single or batch)
  • Browse variants in a sortable, filterable data table
  • Filter by gene, consequence, allele frequency, pathogenicity scores, and more
  • Annotate variants with stars, comments, tags, and ACMG classifications
  • Enrich variants on-demand with VEP, SpliceAI, and MyVariant.info
  • Analyze cohorts with carrier aggregation and gene burden testing (Fisher's exact test)
  • Export filtered results to Excel (XLSX)

Architecture

VarLens is an Electron desktop app built with:

  • Vue 3 + Vuetify 3 for the user interface
  • SQLite (via better-sqlite3) for local data storage
  • Electron for cross-platform desktop distribution (Windows, macOS, Linux)

All processing happens locally. External API calls (VEP, gnomAD, ClinVar) are optional and only triggered when you explicitly request enrichment.

Next Steps