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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: 8-11748977-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11748977&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 11748977,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001308093.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "NM_001308093.3",
          "protein_id": "NP_001295022.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1238,
          "cdna_end": null,
          "cdna_length": 3419,
          "mane_select": "ENST00000532059.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308093.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000532059.6",
          "protein_id": "ENSP00000435712.1",
          "transcript_support_level": 1,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1238,
          "cdna_end": null,
          "cdna_length": 3419,
          "mane_select": "NM_001308093.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000532059.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.675C>T",
          "hgvs_p": "p.Thr225Thr",
          "transcript": "ENST00000886854.1",
          "protein_id": "ENSP00000556913.1",
          "transcript_support_level": null,
          "aa_start": 225,
          "aa_end": null,
          "aa_length": 449,
          "cds_start": 675,
          "cds_end": null,
          "cds_length": 1350,
          "cdna_start": 1236,
          "cdna_end": null,
          "cdna_length": 3434,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886854.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000886846.1",
          "protein_id": "ENSP00000556905.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1535,
          "cdna_end": null,
          "cdna_length": 3716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886846.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000886848.1",
          "protein_id": "ENSP00000556907.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1631,
          "cdna_end": null,
          "cdna_length": 3809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886848.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000886851.1",
          "protein_id": "ENSP00000556910.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1373,
          "cdna_end": null,
          "cdna_length": 3553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886851.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000886852.1",
          "protein_id": "ENSP00000556911.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1470,
          "cdna_end": null,
          "cdna_length": 3650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886852.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000886853.1",
          "protein_id": "ENSP00000556912.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1358,
          "cdna_end": null,
          "cdna_length": 3539,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886853.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000952124.1",
          "protein_id": "ENSP00000622183.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 678,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1343,
          "cdna_end": null,
          "cdna_length": 3521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952124.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000952125.1",
          "protein_id": "ENSP00000622184.1",
          "transcript_support_level": null,
          "aa_start": 226,
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          "cdna_start": 1495,
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          "mane_select": null,
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        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "GATA4",
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          "hgvs_p": "p.Thr226Thr",
          "transcript": "ENST00000952126.1",
          "protein_id": "ENSP00000622185.1",
          "transcript_support_level": null,
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          "cds_start": 678,
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          "cdna_start": 2540,
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          "mane_select": null,
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        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "hgvs_c": "c.678C>T",
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          "transcript": "ENST00000952127.1",
          "protein_id": "ENSP00000622186.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
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          "intron_rank": null,
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          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
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          "hgvs_p": "p.Thr225Thr",
          "transcript": "NM_002052.5",
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          "biotype": "protein_coding",
          "feature": "NM_002052.5"
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        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.675C>T",
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        {
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          "gene_symbol": "GATA4",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 4,
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          "gene_symbol": "GATA4",
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          "hgvs_c": "c.675C>T",
          "hgvs_p": "p.Thr225Thr",
          "transcript": "ENST00000886845.1",
          "protein_id": "ENSP00000556904.1",
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        {
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          "exon_rank": 3,
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          "exon_count": 7,
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          "gene_symbol": "GATA4",
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          "hgvs_c": "c.675C>T",
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        {
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        {
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          "biotype": "protein_coding",
          "feature": "ENST00000886850.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "GATA4",
          "gene_hgnc_id": 4173,
          "hgvs_c": "c.675C>T",
          "hgvs_p": "p.Thr225Thr",
          "transcript": "ENST00000886855.1",
          "protein_id": "ENSP00000556914.1",
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      "computational_source_selected": "BayesDel_noAF",
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      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Atrioventricular septal defect 4|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.