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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: 3-177026379-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177026379&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 177026379,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_024665.7",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "NM_024665.7",
          "protein_id": "NP_078941.2",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1995,
          "cdna_end": null,
          "cdna_length": 8182,
          "mane_select": "ENST00000457928.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000457928.7",
          "protein_id": "ENSP00000413251.3",
          "transcript_support_level": 1,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1995,
          "cdna_end": null,
          "cdna_length": 8182,
          "mane_select": "NM_024665.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000430069.5",
          "protein_id": "ENSP00000405574.1",
          "transcript_support_level": 1,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1772,
          "cdna_end": null,
          "cdna_length": 7948,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "n.1452T>C",
          "hgvs_p": null,
          "transcript": "ENST00000474363.1",
          "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": 6229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "NM_001321193.3",
          "protein_id": "NP_001308122.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1772,
          "cdna_end": null,
          "cdna_length": 7959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "NM_001321194.3",
          "protein_id": "NP_001308123.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 2114,
          "cdna_end": null,
          "cdna_length": 8301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "NM_001374327.1",
          "protein_id": "NP_001361256.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1919,
          "cdna_end": null,
          "cdna_length": 8106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "NM_001374328.1",
          "protein_id": "NP_001361257.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1802,
          "cdna_end": null,
          "cdna_length": 7989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "NM_001374329.1",
          "protein_id": "NP_001361258.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1783,
          "cdna_end": null,
          "cdna_length": 7970,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000352800.10",
          "protein_id": "ENSP00000263964.11",
          "transcript_support_level": 5,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1689,
          "cdna_end": null,
          "cdna_length": 2454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000422066.6",
          "protein_id": "ENSP00000398477.2",
          "transcript_support_level": 4,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1856,
          "cdna_end": null,
          "cdna_length": 2619,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000422442.6",
          "protein_id": "ENSP00000387849.3",
          "transcript_support_level": 5,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1859,
          "cdna_end": null,
          "cdna_length": 2535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000673974.1",
          "protein_id": "ENSP00000501274.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1743,
          "cdna_end": null,
          "cdna_length": 6502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000704383.1",
          "protein_id": "ENSP00000515885.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1907,
          "cdna_end": null,
          "cdna_length": 8082,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000704384.1",
          "protein_id": "ENSP00000515886.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1703,
          "cdna_end": null,
          "cdna_length": 1991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1512T>C",
          "hgvs_p": "p.Asp504Asp",
          "transcript": "ENST00000704385.1",
          "protein_id": "ENSP00000515887.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1512,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": 1818,
          "cdna_end": null,
          "cdna_length": 1902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1251T>C",
          "hgvs_p": "p.Asp417Asp",
          "transcript": "NM_001321195.3",
          "protein_id": "NP_001308124.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 1669,
          "cdna_end": null,
          "cdna_length": 7856,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1251T>C",
          "hgvs_p": "p.Asp417Asp",
          "transcript": "NM_001374330.1",
          "protein_id": "NP_001361259.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 1892,
          "cdna_end": null,
          "cdna_length": 8079,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.1251T>C",
          "hgvs_p": "p.Asp417Asp",
          "transcript": "ENST00000431421.6",
          "protein_id": "ENSP00000402402.2",
          "transcript_support_level": 4,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 1635,
          "cdna_end": null,
          "cdna_length": 3814,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBL1XR1",
          "gene_hgnc_id": 29529,
          "hgvs_c": "c.168T>C",
          "hgvs_p": "p.Asp56Asp",
          "transcript": "ENST00000626758.1",
          "protein_id": "ENSP00000486622.1",
          "transcript_support_level": 5,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 66,
          "cds_start": 168,
          "cds_end": null,
          "cds_length": 201,
          "cdna_start": 169,
          "cdna_end": null,
          "cdna_length": 355,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
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      "phylop100way_score": 3.142,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Pierpont syndrome",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}