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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: 2-130140188-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130140188&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 130140188,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_207310.4",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.669G>A",
          "hgvs_p": "p.Gln223Gln",
          "transcript": "NM_001258307.2",
          "protein_id": "NP_001245236.1",
          "transcript_support_level": null,
          "aa_start": 223,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": 669,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000409943.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001258307.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.669G>A",
          "hgvs_p": "p.Gln223Gln",
          "transcript": "ENST00000409943.8",
          "protein_id": "ENSP00000386294.3",
          "transcript_support_level": 1,
          "aa_start": 223,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": 669,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001258307.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409943.8"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.879G>A",
          "hgvs_p": "p.Gln293Gln",
          "transcript": "ENST00000860854.1",
          "protein_id": "ENSP00000530913.1",
          "transcript_support_level": null,
          "aa_start": 293,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": 879,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860854.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.879G>A",
          "hgvs_p": "p.Gln293Gln",
          "transcript": "ENST00000944366.1",
          "protein_id": "ENSP00000614425.1",
          "transcript_support_level": null,
          "aa_start": 293,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": 879,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944366.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.867G>A",
          "hgvs_p": "p.Gln289Gln",
          "transcript": "NM_207310.4",
          "protein_id": "NP_997193.1",
          "transcript_support_level": null,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 867,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_207310.4"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.867G>A",
          "hgvs_p": "p.Gln289Gln",
          "transcript": "ENST00000310463.10",
          "protein_id": "ENSP00000308873.6",
          "transcript_support_level": 2,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 867,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000310463.10"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.867G>A",
          "hgvs_p": "p.Gln289Gln",
          "transcript": "ENST00000944367.1",
          "protein_id": "ENSP00000614426.1",
          "transcript_support_level": null,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 378,
          "cds_start": 867,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944367.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.855G>A",
          "hgvs_p": "p.Gln285Gln",
          "transcript": "ENST00000860856.1",
          "protein_id": "ENSP00000530915.1",
          "transcript_support_level": null,
          "aa_start": 285,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 855,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860856.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.807G>A",
          "hgvs_p": "p.Gln269Gln",
          "transcript": "ENST00000860857.1",
          "protein_id": "ENSP00000530916.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 360,
          "cds_start": 807,
          "cds_end": null,
          "cds_length": 1083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860857.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.795G>A",
          "hgvs_p": "p.Gln265Gln",
          "transcript": "ENST00000860853.1",
          "protein_id": "ENSP00000530912.1",
          "transcript_support_level": null,
          "aa_start": 265,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 795,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860853.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.744G>A",
          "hgvs_p": "p.Gln248Gln",
          "transcript": "ENST00000860855.1",
          "protein_id": "ENSP00000530914.1",
          "transcript_support_level": null,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": 744,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860855.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.681G>A",
          "hgvs_p": "p.Gln227Gln",
          "transcript": "ENST00000944368.1",
          "protein_id": "ENSP00000614427.1",
          "transcript_support_level": null,
          "aa_start": 227,
          "aa_end": null,
          "aa_length": 318,
          "cds_start": 681,
          "cds_end": null,
          "cds_length": 957,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944368.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.618G>A",
          "hgvs_p": "p.Gln206Gln",
          "transcript": "ENST00000860852.1",
          "protein_id": "ENSP00000530911.1",
          "transcript_support_level": null,
          "aa_start": 206,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 618,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000860852.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.1173G>A",
          "hgvs_p": "p.Gln391Gln",
          "transcript": "XM_011512142.3",
          "protein_id": "XP_011510444.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": 1173,
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        },
        {
          "aa_ref": "Q",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.1005G>A",
          "hgvs_p": "p.Gln335Gln",
          "transcript": "XM_006712833.3",
          "protein_id": "XP_006712896.1",
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          "aa_start": 335,
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          "cds_start": 1005,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_006712833.3"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.993G>A",
          "hgvs_p": "p.Gln331Gln",
          "transcript": "XM_005263840.3",
          "protein_id": "XP_005263897.1",
          "transcript_support_level": null,
          "aa_start": 331,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 993,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.879G>A",
          "hgvs_p": "p.Gln293Gln",
          "transcript": "XM_006712834.4",
          "protein_id": "XP_006712897.1",
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        {
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          ],
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          "gene_symbol": "CCDC74B",
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          "hgvs_c": "c.807G>A",
          "hgvs_p": "p.Gln269Gln",
          "transcript": "XM_006712835.3",
          "protein_id": "XP_006712898.1",
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        {
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          "exon_count": 8,
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          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.795G>A",
          "hgvs_p": "p.Gln265Gln",
          "transcript": "XM_005263842.3",
          "protein_id": "XP_005263899.1",
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_005263842.3"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCDC74B",
          "gene_hgnc_id": 25267,
          "hgvs_c": "c.681G>A",
          "hgvs_p": "p.Gln227Gln",
          "transcript": "XM_006712837.3",
          "protein_id": "XP_006712900.1",
          "transcript_support_level": null,
          "aa_start": 227,
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          "aa_length": 318,
          "cds_start": 681,
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      "bayesdelnoaf_score": -0.64,
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      "phylop100way_prediction": "Benign",
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      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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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
}