Cortexa research tool·genomics·ncbi_variation

NCBIVariation Spdi To Hgvs

Convert a variant in SPDI notation to HGVS notation using NCBI Variation Services. SPDI (Sequence Position Deletion Insertion) is NCBI's canonical variant representation. Input format: 'SeqID:Position:DeletedSequence:InsertedSequence' (e.g., 'NC_000001.11:230710047:A:G'). Returns the equivalent HGVS genomic description (e.g., 'NC_000001.11:g.230710048A>G'). Note: SPDI uses 0-based interbase coordinates, while HGVS uses 1-based.

Livelast probed 2026-05-01 01:00Z· 99msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 99ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "spdi": {
      "description": "Variant in SPDI notation (SeqID:Position:Deleted:Inserted). Examples: 'NC_000001.11:230710047:A:G' (AGT M259T), 'NC_000017.11:7674220:G:C' (TP53 region), 'NM_000059.4:266:AT:' (BRCA2 c.68_69del)",
      "type": "string"
    }
  },
  "required": [
    "spdi"
  ],
  "type": "object"
}

Examples (1)

Default NCBIVariation Spdi To Hgvs call

public-safeinput

{
  "spdi": ""
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_NCBIVariation_spdi_to_hgvs
Tool name: NCBIVariation_spdi_to_hgvs
Added: 2026-05-01 00:58Z
Tags: tooluniverse

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