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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: 10-8066629-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=8066629&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 8066629,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000379328.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001002295.2",
          "protein_id": "NP_001002295.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3083,
          "mane_select": "ENST00000379328.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "ENST00000379328.9",
          "protein_id": "ENSP00000368632.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3083,
          "mane_select": "NM_001002295.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.921+2491T>A",
          "hgvs_p": null,
          "transcript": "ENST00000346208.4",
          "protein_id": "ENSP00000341619.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "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": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001441115.1",
          "protein_id": "NP_001428044.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001441116.1",
          "protein_id": "NP_001428045.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3262,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001441117.1",
          "protein_id": "NP_001428046.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
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          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3404,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001441118.1",
          "protein_id": "NP_001428047.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3427,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001441119.1",
          "protein_id": "NP_001428048.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
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          "cdna_length": 3552,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
          "hgvs_p": null,
          "transcript": "NM_001441120.1",
          "protein_id": "NP_001428049.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "mane_select": null,
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          "feature": null
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        {
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          "consequences": [
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          "exon_count": 8,
          "intron_rank": 6,
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          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.924+2491T>A",
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          "transcript": "NM_001441121.1",
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          "transcript_support_level": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "GATA3",
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        {
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          "gene_symbol": "GATA3",
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      "gene_symbol": "GATA3",
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      "gnomad_exomes_homalt": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.800000011920929,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.8,
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      "phylop100way_score": -0.069,
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      "spliceai_max_score": 0,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
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          "benign_score": 4,
          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000379328.9",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}