VarSome
Variant search engine that aggregates data from 150+ sources and provides automated ACMG/AMP classification. Free tier available.
What It Does
- Aggregates: ClinVar, gnomAD, REVEL, CADD, SpliceAI, conservation scores, literature
- Automated ACMG/AMP classification with evidence breakdown
- Shows all predictor scores on one page
- Community annotations and classifications
- Supports GRCh37 and GRCh38
How to Use
Web
- Go to https://varsome.com
- Search: “STRC E1659A” or “chr15:43600551:A:C” or “NM_153700:c.4976A>C”
- Review automated ACMG classification
- Check individual predictor scores
API (requires registration)
curl "https://api.varsome.com/lookup/15-43600551-A-C?add-ACMG-annotation=1" \
-H "Authorization: Bearer YOUR_TOKEN"Verified Status
VERIFIED — E1659A findable on VarSome. Shows aggregated predictor scores and automated ACMG classification.
STRC Research Usage
- Quick cross-reference for any STRC variant
- Useful to see all predictor scores in one place
- Automated ACMG may differ from our manual classification — good for comparison
Results (April 2026)
- VarSome API: returns 404 for E1659A without API token (free registration needed)
- Web interface works: E1659A findable with aggregated scores
- API registration done — VarSome doesn’t give immediate access (approval process). Web interface works for E1659A lookup with all aggregated scores. For now, all key scores obtained via other APIs (VEP, AlphaMissense, gnomAD directly).