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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: 16-24799360-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=24799360&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 24799360,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_014494.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3694+1394C>T",
          "hgvs_p": null,
          "transcript": "NM_014494.4",
          "protein_id": "NP_055309.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1962,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5889,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000395799.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014494.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3694+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000395799.8",
          "protein_id": "ENSP00000379144.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1962,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5889,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014494.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395799.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "n.*3219+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000491718.5",
          "protein_id": "ENSP00000460688.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000491718.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3721+1394C>T",
          "hgvs_p": null,
          "transcript": "NM_001351850.2",
          "protein_id": "NP_001338779.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351850.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3559+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000949507.1",
          "protein_id": "ENSP00000619566.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1917,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5754,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000949507.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3694+1394C>T",
          "hgvs_p": null,
          "transcript": "NM_001330520.3",
          "protein_id": "NP_001317449.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1913,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001330520.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3694+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000315183.11",
          "protein_id": "ENSP00000326900.7",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1913,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000315183.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3694+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000938483.1",
          "protein_id": "ENSP00000608542.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1890,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5673,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938483.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3559+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000938484.1",
          "protein_id": "ENSP00000608543.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1868,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5607,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938484.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3484+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000938481.1",
          "protein_id": "ENSP00000608540.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1843,
          "cds_start": null,
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          "cds_length": 5532,
          "cdna_start": null,
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        {
          "aa_ref": null,
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          "exon_count": 23,
          "intron_rank": 10,
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          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3517+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000938482.1",
          "protein_id": "ENSP00000608541.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1831,
          "cds_start": null,
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          "cdna_start": null,
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        {
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        {
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          "hgvs_c": "c.3268+1394C>T",
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          "protein_id": "ENSP00000565526.1",
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        {
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          "exon_count": 18,
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          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.673+1394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000450465.6",
          "protein_id": "ENSP00000404278.2",
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        {
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          "gene_hgnc_id": 11969,
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          "transcript": "XM_017023144.3",
          "protein_id": "XP_016878633.1",
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        {
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          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3661+1394C>T",
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          "protein_id": "XP_047289866.1",
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        {
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        {
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          ],
          "exon_rank": null,
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          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNRC6A",
          "gene_hgnc_id": 11969,
          "hgvs_c": "c.3613+1394C>T",
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          "transcript": "XM_047433911.1",
          "protein_id": "XP_047289867.1",
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_014494.4",
          "gene_symbol": "TNRC6A",
          "hgnc_id": 11969,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "Unknown",
          "hgvs_c": "c.3694+1394C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}