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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: 17-35617036-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35617036&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 35617036,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000610402.5",
      "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": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "NM_001030006.2",
          "protein_id": "NP_001025177.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 951,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2856,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5700,
          "mane_select": "ENST00000610402.5",
          "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": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000610402.5",
          "protein_id": "ENSP00000483185.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 951,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2856,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5700,
          "mane_select": "NM_001030006.2",
          "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": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000618940.4",
          "protein_id": "ENSP00000482835.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 951,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2856,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3415,
          "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": 21,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000621914.4",
          "protein_id": "ENSP00000482315.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 937,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2814,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5702,
          "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": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000612116.5",
          "protein_id": "ENSP00000478115.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 676,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2031,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3483,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "n.*462-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000620039.4",
          "protein_id": "ENSP00000481246.1",
          "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": 3428,
          "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": 21,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "NM_001282.3",
          "protein_id": "NP_001273.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 937,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2814,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5658,
          "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": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.412-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000616681.4",
          "protein_id": "ENSP00000484708.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3267,
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000612035.4",
          "protein_id": "ENSP00000482825.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 676,
          "cds_start": -4,
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          "cds_length": 2031,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 5,
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          "gene_symbol": "AP2B1",
          "gene_hgnc_id": 563,
          "hgvs_c": "c.526-7361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000614600.4",
          "protein_id": "ENSP00000479691.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "AP2B1",
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          "transcript": "ENST00000616784.4",
          "protein_id": "ENSP00000478471.1",
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          "cds_start": -4,
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          "cdna_start": null,
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        {
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          "intron_rank": 5,
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          "gene_symbol": "AP2B1",
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      "gene_symbol": "AP2B1",
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
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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
}