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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: 15-82666761-TC-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82666761&ref=TC&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 82666761,
      "ref": "TC",
      "alt": "T",
      "effect": "frameshift_variant",
      "transcript": "ENST00000535359.6",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "NM_001278512.2",
          "protein_id": "NP_001265441.1",
          "transcript_support_level": null,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 1101,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 3306,
          "cdna_start": 2006,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": "ENST00000535359.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "ENST00000535359.6",
          "protein_id": "ENSP00000440984.1",
          "transcript_support_level": 1,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 1101,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 3306,
          "cdna_start": 2006,
          "cdna_end": null,
          "cdna_length": 3754,
          "mane_select": "NM_001278512.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "ENST00000261722.8",
          "protein_id": "ENSP00000261722.4",
          "transcript_support_level": 1,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": 2050,
          "cdna_end": null,
          "cdna_length": 3738,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1741delG",
          "hgvs_p": "p.Glu581fs",
          "transcript": "ENST00000535348.5",
          "protein_id": "ENSP00000438721.1",
          "transcript_support_level": 1,
          "aa_start": 581,
          "aa_end": null,
          "aa_length": 1050,
          "cds_start": 1741,
          "cds_end": null,
          "cds_length": 3153,
          "cdna_start": 1814,
          "cdna_end": null,
          "cdna_length": 3254,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.1983delG",
          "hgvs_p": null,
          "transcript": "ENST00000537735.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3663,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CPEB1-AS1",
          "gene_hgnc_id": 27523,
          "hgvs_c": "n.1328+16617delC",
          "hgvs_p": null,
          "transcript": "ENST00000560650.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "ENST00000652847.1",
          "protein_id": "ENSP00000499785.1",
          "transcript_support_level": null,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 1130,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 3393,
          "cdna_start": 2006,
          "cdna_end": null,
          "cdna_length": 3714,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1966delG",
          "hgvs_p": "p.Glu656fs",
          "transcript": "ENST00000642989.2",
          "protein_id": "ENSP00000493485.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 1125,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 3378,
          "cdna_start": 1992,
          "cdna_end": null,
          "cdna_length": 3683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "NM_004644.5",
          "protein_id": "NP_004635.2",
          "transcript_support_level": null,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 1082,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 3249,
          "cdna_start": 2006,
          "cdna_end": null,
          "cdna_length": 3697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "ENST00000668990.2",
          "protein_id": "ENSP00000499235.1",
          "transcript_support_level": null,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 1082,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 3249,
          "cdna_start": 2006,
          "cdna_end": null,
          "cdna_length": 3697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1741delG",
          "hgvs_p": "p.Glu581fs",
          "transcript": "NM_001278511.2",
          "protein_id": "NP_001265440.1",
          "transcript_support_level": null,
          "aa_start": 581,
          "aa_end": null,
          "aa_length": 1050,
          "cds_start": 1741,
          "cds_end": null,
          "cds_length": 3153,
          "cdna_start": 1910,
          "cdna_end": null,
          "cdna_length": 3601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1666delG",
          "hgvs_p": "p.Glu556fs",
          "transcript": "ENST00000669930.1",
          "protein_id": "ENSP00000499671.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1025,
          "cds_start": 1666,
          "cds_end": null,
          "cds_length": 3078,
          "cdna_start": 1807,
          "cdna_end": null,
          "cdna_length": 3461,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.1837delG",
          "hgvs_p": "p.Glu613fs",
          "transcript": "ENST00000666973.1",
          "protein_id": "ENSP00000499288.1",
          "transcript_support_level": null,
          "aa_start": 613,
          "aa_end": null,
          "aa_length": 992,
          "cds_start": 1837,
          "cds_end": null,
          "cds_length": 2979,
          "cdna_start": 1954,
          "cdna_end": null,
          "cdna_length": 3420,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "c.745delG",
          "hgvs_p": "p.Glu249fs",
          "transcript": "ENST00000660624.1",
          "protein_id": "ENSP00000499379.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 745,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 960,
          "cdna_end": null,
          "cdna_length": 2650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.2340delG",
          "hgvs_p": null,
          "transcript": "ENST00000535385.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.2040delG",
          "hgvs_p": null,
          "transcript": "ENST00000543938.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4168,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.*1461delG",
          "hgvs_p": null,
          "transcript": "ENST00000657321.1",
          "protein_id": "ENSP00000499716.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3698,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.1063delG",
          "hgvs_p": null,
          "transcript": "ENST00000661532.1",
          "protein_id": "ENSP00000499583.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2750,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.1979delG",
          "hgvs_p": null,
          "transcript": "ENST00000663651.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.*1725delG",
          "hgvs_p": null,
          "transcript": "ENST00000667758.1",
          "protein_id": "ENSP00000499318.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4643,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP3B2",
          "gene_hgnc_id": 567,
          "hgvs_c": "n.*1635delG",
          "hgvs_p": null,
          "transcript": "ENST00000668385.1",
          "protein_id": "ENSP00000499544.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "verdict": "Pathogenic",
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      "clinvar_disease": " 48,Developmental and epileptic encephalopathy",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "P:1",
      "phenotype_combined": "Developmental and epileptic encephalopathy, 48",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
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  "message": null
}