VarSage is in development and available by early access only. For Research Use Only. Not for use in diagnostic procedures. Not FDA-cleared.

VarSage

AI-assisted variant interpretation · In development

Know what the evidence says — and what it doesn't.

VarSage is research software for genomic variant interpretation across genes and disease domains. It is built to state the uncertainty behind each conclusion and trace it to its evidence.

Request early access How it works

A classification is only as useful as its stated limits

Variant interpretation means weighing population data, prior classifications, computational predictions and literature against the ACMG/AMP framework. Most tools return a label. Few say how strong the evidence behind it is, which criteria could not be assessed, or which version of a reference database produced the answer. The reviewing geneticist is left to reconstruct that.

What VarSage does

  • Uncertainty, stated explicitly

    Each result is built to carry its uncertainty and its evidence gaps. When the evidence cannot support a conclusion, VarSage says so and says why. “Not enough evidence” is a valid answer.

  • Evidence you can trace

    Each applied criterion links to the record behind it. Each report records the reference-data releases it used, and lists any source it consulted but could not yet cite.

  • Built on ACMG/AMP

    Criteria are applied by a rule-based engine following ACMG/AMP guidelines, with ClinGen refinements where they exist. Published computational predictors count as evidence, never as a classification on their own.

  • A professional decides

    VarSage drafts and explains; it does not diagnose. A report is final only after a qualified reviewer examines and approves it. Criteria that were withheld are shown with the reason, or flagged where none was recorded.

How it works

  1. Submit a VCF

    Upload a standard VCF file and choose the analysis.

  2. Gather evidence

    VarSage retrieves population, clinical-database, computational and literature evidence, pinned to specific reference-data releases.

  3. Assess and quantify

    ACMG/AMP criteria are evaluated, uncertainty and evidence gaps are measured, and anything that could not be evaluated is recorded with its reason.

  4. Review and approve

    A qualified reviewer examines the evidence, adjusts as needed, and approves the report.

Gene-panel-agnostic by design

VarSage is not tied to a gene panel. Its analysis domains include:

  • Rare disease
  • Family trio analysis
  • Copy-number and structural variants
  • Pharmacogenomics
  • Oncology
  • Mitochondrial variants
  • Repeat expansions

Each is treated as a first-class part of the platform. Validation for each domain is in progress.

Early access

VarSage is in development and available by early access only. Geneticists and research laboratory teams can write to contact@varsage.com.

Request early access

Security issues: security@varsage.com. Privacy questions: privacy@varsage.com.