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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 11-122155752-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=122155752&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 4,
          "criteria": [
            "BP4_Strong"
          ],
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "gene_symbol": "MIR100HG",
          "hgnc_id": 39522,
          "hgvs_c": "n.549G>T",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": -4,
          "transcript": "ENST00000780507.1",
          "verdict": "Likely_benign"
        }
      ],
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_score": -4,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "A",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.83,
      "chr": "11",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.8299999833106995,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 494,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000534782.4",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.387+24584G>T",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000534782.4",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 625,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 1,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000780507.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.549G>T",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000780507.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1820,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000532350.6",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.388-120G>T",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000532350.6",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1794,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000533109.6",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.917-120G>T",
          "hgvs_p": null,
          "intron_rank": 6,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000533109.6",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 572,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000534297.2",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.104-120G>T",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000534297.2",
          "transcript_support_level": 4
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2262,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000637700.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.600-120G>T",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000637700.1",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2801,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000648209.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.186-120G>T",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000648209.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3137,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000648734.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.532-120G>T",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000648734.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3226,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000649216.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.546-120G>T",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000649216.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2971,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000649293.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.366-120G>T",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000649293.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3740,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000650497.2",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.1083-120G>T",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000650497.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1759,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000653565.3",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.413-120G>T",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000653565.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2038,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000654629.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.571-120G>T",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000654629.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2867,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000655138.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.288-120G>T",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000655138.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2585,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000655814.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.575-120G>T",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000655814.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2900,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000656793.2",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.298-120G>T",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000656793.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1087,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 2,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000657990.2",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.181-120G>T",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000657990.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1249,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000658183.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.343-120G>T",
          "hgvs_p": null,
          "intron_rank": 3,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000658183.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 960,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000660311.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.209-120G>T",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000660311.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2766,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000660603.1",
          "gene_hgnc_id": 39522,
          "gene_symbol": "MIR100HG",
          "hgvs_c": "n.181-120G>T",
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.