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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: 6-97761473-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97761473&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 97761473,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000574739.2",
      "consequences": [
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1081+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000574739.2",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 1353,
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.551+7702C>T",
          "hgvs_p": null,
          "transcript": "ENST00000653817.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1497,
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1096+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000656098.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1897,
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.792+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000658994.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1862,
          "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": 20,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1135+7702C>T",
          "hgvs_p": null,
          "transcript": "ENST00000661998.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2243,
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.360+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000665158.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1383,
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.569+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000668451.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1515,
          "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": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.829+7702C>T",
          "hgvs_p": null,
          "transcript": "ENST00000668841.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1168,
          "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": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1294+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000669069.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2015,
          "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": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1118+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000671308.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2347,
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1065+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000847783.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2012,
          "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": 13,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1028+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000847784.1",
          "protein_id": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1757,
          "mane_select": null,
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        {
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          "strand": true,
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          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.616+53669C>T",
          "hgvs_p": null,
          "transcript": "ENST00000847785.1",
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        },
        {
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          ],
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          "intron_rank": 7,
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          "gene_symbol": "ENSG00000271860",
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          "hgvs_c": "n.773+53669C>T",
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          "transcript": "ENST00000847786.1",
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        },
        {
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
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          "hgvs_c": "n.450+53669C>T",
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          "transcript": "ENST00000847787.1",
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          "gene_symbol": "ENSG00000271860",
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          "hgvs_c": "n.265+53669C>T",
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          "transcript": "ENST00000847788.1",
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        {
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          "exon_count": 11,
          "intron_rank": 5,
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          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.520-8069C>T",
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          "transcript": "ENST00000847789.1",
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        {
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          "exon_count": 13,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.563+53669C>T",
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          "transcript": "ENST00000847790.1",
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          "gene_symbol": "ENSG00000271860",
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          "gene_symbol": "ENSG00000271860",
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          "hgvs_c": "n.275+53669C>T",
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        {
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          ],
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000271860",
          "gene_hgnc_id": null,
          "hgvs_c": "n.402+53669C>T",
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          "transcript": "ENST00000847806.1",
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      "computational_score_selected": -0.9599999785423279,
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      "phylop100way_prediction": "Benign",
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
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          "gene_symbol": "ENSG00000271860",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.1081+53669C>T",
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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
}