Hpo Api

liveHealthBiologyScience

Human Phenotype Ontology (HPO) API — look up phenotype terms, disease-phenotype associations, and gene-disease relationships for clinical genomics.

7tools
0msauth
free tier50 calls/day

Tools

term

HPO term by id.

No parameters required.

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term_children

Direct children.

No parameters required.

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term_parents

Direct parents.

No parameters required.

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term_descendants

Full descendant subtree.

No parameters required.

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gene_diseases

Diseases for a gene id (NCBIGene).

No parameters required.

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disease_phenotypes

HPO terms for a disease (OMIM/ORPHA/MONDO).

No parameters required.

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Test with curl

The gateway speaks JSON-RPC 2.0 over HTTP POST. You can test any pack directly from the terminal.

List available tools
bash
curl -X POST https://gateway.pipeworx.io/hpo-api/mcp \
  -H "Content-Type: application/json" \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/list"}'
Call a tool
bash
curl -X POST https://gateway.pipeworx.io/hpo-api/mcp \
  -H "Content-Type: application/json" \
  -d '{"jsonrpc":"2.0","id":2,"method":"tools/call","params":{"name":"term","arguments":{}}}'

Use with the SDK

Install @pipeworx/sdk to call tools from any TypeScript/Node project.

TypeScript
import { Pipeworx } from '@pipeworx/sdk';
const px = new Pipeworx();
const result = await px.call("term", {});
ask_pipeworx
// Or ask in plain English:
const answer = await px.ask("human phenotype ontology (hpo) api — look up phenotype terms, disease-phenotype associations, and gene-disease relationships for clinical genomics");