variant_annotate
ActiveTool of com.seqbench/workbench
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
}No endpoints wrapped at confidence ≥ 0.70.
Parent server
com.seqbench/workbench
1/7 registries