Variant Explorer

LIVE

Supported genes

STXBP1 (primary), SNAP25 (live), PEX10 (preview gene shipped Session 87 with AlphaFold structure, domain definitions, and foundation partner). More genes added as foundation partnerships land.

Searching variants

Search by HGVS notation, protein change, or ClinVar ID. A pathogenicity pill appears alongside every result.

The draggable split-pane

Research Mode uses a draggable split-pane: variant list on the left, 3D viewer in the center, analysis panel on the right. Resize between 15 and 85 percent to match your monitor and your task.

Analysis Report Modal

Schema-driven — new variants inherit the report structure without per-variant UI work. Variant identity (gene, HGVS protein change, genomic coordinates, ClinVar accession). Disease context badges (OMIM, MONDO, HGNC, UniProt). Evidence tables: What We Know / What We Infer / What Remains Unknown. A "Why You Should Be Cautious" amber section on every report. External link grid (ClinVar, ClinGen, gnomAD, LOVD, HGMD).

ARIA does not assert pathogenicity claims. Variant classification is reported, not manufactured. Phenopacket exports carry acmgPathogenicityClassification: NOT_PROVIDED.

Why it exists

Variant interpretation across public databases is fragmented and often out of date. Variant Explorer consolidates what exists for a given gene and pairs it with structural context so clinical and research interpretations start from a common view.