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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: 11-86477110-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=86477110&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 86477110,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000543262.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "ENST00000393324.7",
          "protein_id": "ENSP00000376998.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2240,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "ENST00000543262.6",
          "protein_id": "ENSP00000440246.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2293,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "NM_001014811.2",
          "protein_id": "NP_001014811.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2217,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "NM_001161586.3",
          "protein_id": "NP_001155058.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2293,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "NM_001351934.2",
          "protein_id": "NP_001338863.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "NM_006680.3",
          "protein_id": "NP_006671.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
          "hgvs_p": null,
          "transcript": "NM_001395868.1",
          "protein_id": "NP_001382797.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.623+10227T>A",
          "hgvs_p": null,
          "transcript": "ENST00000323418.10",
          "protein_id": "ENSP00000315255.6",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000254733",
          "gene_hgnc_id": null,
          "hgvs_c": "n.383+44468A>T",
          "hgvs_p": null,
          "transcript": "ENST00000524610.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1142,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "n.328+10227T>A",
          "hgvs_p": null,
          "transcript": "ENST00000525957.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 619,
          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 7,
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          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "n.809+10227T>A",
          "hgvs_p": null,
          "transcript": "ENST00000526504.5",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 6,
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          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "n.830+10227T>A",
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          "intron_rank": 2,
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          "gene_symbol": "ENSG00000254733",
          "gene_hgnc_id": null,
          "hgvs_c": "n.423+44468A>T",
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          "intron_rank": 7,
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          "hgvs_c": "n.927+10227T>A",
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          "transcript": "NR_147828.2",
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        {
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          "intron_rank": 7,
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          "gene_symbol": "ME3",
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          "intron_rank": 7,
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          "gene_symbol": "ME3",
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          "hgvs_c": "n.1116+10227T>A",
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          "gene_symbol": "ME3",
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          "hgvs_c": "c.398+10227T>A",
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          ],
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          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ME3",
          "gene_hgnc_id": 6985,
          "hgvs_c": "c.809+10227T>A",
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          "transcript": "XM_047426305.1",
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          "verdict": "Likely_benign",
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          "verdict": "Likely_benign",
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          "effects": [
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          "inheritance_mode": "",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}