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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: 16-8779572-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8779572&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 8779572,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001386615.1",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_020686.6",
          "protein_id": "NP_065737.2",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000268251.13",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020686.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "ENST00000268251.13",
          "protein_id": "ENSP00000268251.8",
          "transcript_support_level": 1,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_020686.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000268251.13"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "ENST00000569156.5",
          "protein_id": "ENSP00000454963.1",
          "transcript_support_level": 1,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000569156.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "n.*1103T>G",
          "hgvs_p": null,
          "transcript": "ENST00000566590.5",
          "protein_id": "ENSP00000455198.1",
          "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": "ENST00000566590.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "n.*1103T>G",
          "hgvs_p": null,
          "transcript": "ENST00000566590.5",
          "protein_id": "ENSP00000455198.1",
          "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": "ENST00000566590.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1459T>G",
          "hgvs_p": "p.Leu487Val",
          "transcript": "NM_001386615.1",
          "protein_id": "NP_001373544.1",
          "transcript_support_level": null,
          "aa_start": 487,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": 1459,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386615.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001386616.1",
          "protein_id": "NP_001373545.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386616.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1408T>G",
          "hgvs_p": "p.Leu470Val",
          "transcript": "ENST00000567812.5",
          "protein_id": "ENSP00000456330.1",
          "transcript_support_level": 2,
          "aa_start": 470,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1408,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000567812.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_000663.5",
          "protein_id": "NP_000654.2",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000663.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001127448.2",
          "protein_id": "NP_001120920.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127448.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001386600.1",
          "protein_id": "NP_001373529.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386600.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001386601.1",
          "protein_id": "NP_001373530.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386601.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001386602.1",
          "protein_id": "NP_001373531.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386602.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001386603.1",
          "protein_id": "NP_001373532.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386603.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "NM_001386604.1",
          "protein_id": "NP_001373533.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386604.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "ENST00000396600.6",
          "protein_id": "ENSP00000379845.2",
          "transcript_support_level": 5,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396600.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "ENST00000425191.6",
          "protein_id": "ENSP00000411916.2",
          "transcript_support_level": 2,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425191.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "ENST00000909342.1",
          "protein_id": "ENSP00000579401.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909342.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1363T>G",
          "hgvs_p": "p.Leu455Val",
          "transcript": "ENST00000909343.1",
          "protein_id": "ENSP00000579402.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909343.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABAT",
          "gene_hgnc_id": 23,
          "hgvs_c": "c.1324T>G",
          "hgvs_p": "p.Leu442Val",
          "transcript": "NM_001386605.1",
          "protein_id": "NP_001373534.1",
          "transcript_support_level": null,
          "aa_start": 442,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 1324,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386605.1"
        },
        {
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Gamma-aminobutyric acid transaminase deficiency",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
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