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VarSome

VERIFIED

## Connections

variant-classification aggregator acmg

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

1. Go to https://varsome.com

2. Search: "STRC E1659A" or "chr15:43600551:A:C" or "NM_153700:c.4976A>C"

3. Review automated ACMG classification

4. 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).

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).