variant_annotate

Active

declared in 1.1.0

One-box variant lookup against MyVariant.info: accepts an rsID, chrom:pos:ref:alt, genomic HGVS ("chr17:g.7676154G>C"), or transcript HGVS c. ("NM_000546.6:c.215C>G" / "TP53:c.215C>G", bridged via the hgvs_convert tool). Returns a ClinVar significance summary, gnomAD exome/genome allele frequencies, and CADD/SIFT/PolyPhen2/REVEL pathogenicity predictor scores — each section explicitly null when that source has no data, never silently omitted. See the result's own "caveats" for real data-freshness limits (frozen gnomAD/CADD snapshots, periodic ClinVar snapshot).

Parameters schema

{
  "type": "object",
  "required": [
    "variant"
  ],
  "properties": {
    "variant": {
      "type": "string",
      "description": "An rsID (\"rs1042522\"), chrom:pos:ref:alt (\"17:7676154:G:C\", single-base substitutions only), genomic HGVS (\"chr17:g.7676154G>C\" or \"17:g.7676154G>C\"), or transcript HGVS c. (\"NM_000546.6:c.215C>G\" or \"TP53:c.215C>G\")."
    },
    "assembly": {
      "enum": [
        "hg19",
        "hg38"
      ],
      "type": "string",
      "default": "hg19",
      "description": "Genome build for rsID/chrom-pos-ref-alt/genomic-HGVS lookups (MyVariant.info's native default is hg19). Ignored for transcript \"c.\" input, which is always bridged via GRCh38/hg38 (hgvs_convert's own coordinate space)."
    }
  },
  "additionalProperties": false
}

What this tool wraps· 0 endpoints

min confidence0.70 0.50

No endpoints wrapped at confidence ≥ 0.50.

Parent server

com.seqbench/workbench

1/7 registries

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