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manus-skills/.kortix/opencode/skills/data/database-lookup/references/myvariant.md
zhukang 1c7abd81d1 All 310 Manus skill-hub community skills as a Kortix marketplace registry 
- 310 registry:skill items, 1528 files, 7 categories (hub tags)
- registry.json generated by @kortix/registry buildRegistry
- nested SKILL.md in sn-da-* renamed SUBSKILL.md (no phantom skills)
- provenance + licenses: SOURCES.md
2026-09-15 13:37:20 +08:00

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MyVariant.info

A cached bundle of annotations (CADD, dbNSFP, ClinVar snippets, dbSNP) keyed by hg19 genomic HGVS. Use it as a "what else is already stored?" pass, then confirm any score you will write at the live source — Ensembl VEP with CADD=1 (ensembl.md §6), not this cache.

Docs: https://docs.myvariant.info/en/latest/ All figures verified 2026-09-10.

Endpoints

GET https://myvariant.info/v1/query?q={rsID or text}
GET https://myvariant.info/v1/variant/{hg19_id}

/variant/ ids look like chr17:g.7578406C>G. That is hg19. A GRCh38 g. string on this endpoint 404s.

Verified calls

GET /v1/query?q=rs28934578

HTTP 200. First hit:

Field Value
_id chr17:g.7578406C>G
cadd.phred 35
hg19.start 7578406

Live CADD via VEP (CADD=1) for GRCh38 17:7675088 C>G the same day was 29.4. If you report 35 as "the CADD score," you are reporting a cache.

GET /v1/variant/chr17:g.7674220G>A
GET /v1/variant/chr17:g.7674220G>A?assembly=hg38
GET /v1/variant/chr17:g.7577538G>A

All HTTP 404. assembly=hg38 does not make a GRCh38 g. id valid here. Query by rsID, then use the returned _id if you need /variant/.

Traps

  • Default genome for _id is hg19. Write that down.
  • Cached cadd.phred is not live CADD v1.7. Treat a gap of ≥ 0.5 PHRED as "this is not the score to write."
  • ClinVar fields here are a snippet. For a clinical assertion go to clinvar.md.
  • Last call, not first. Do not start an annotation here and skip VEP.