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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: 17-40344694-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40344694&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 40344694,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_000964.4",
      "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "NM_000964.4",
          "protein_id": "NP_000955.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000254066.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000964.4"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000254066.10",
          "protein_id": "ENSP00000254066.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000964.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000254066.10"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.163+1827C>A",
          "hgvs_p": null,
          "transcript": "ENST00000394081.7",
          "protein_id": "ENSP00000377643.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394081.7"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-7216C>A",
          "hgvs_p": null,
          "transcript": "ENST00000425707.7",
          "protein_id": "ENSP00000389993.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425707.7"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.226+3079C>A",
          "hgvs_p": null,
          "transcript": "ENST00000394086.7",
          "protein_id": "ENSP00000377648.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394086.7"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000857084.1",
          "protein_id": "ENSP00000527143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857084.1"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "NM_001145301.3",
          "protein_id": "NP_001138773.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145301.3"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000394089.6",
          "protein_id": "ENSP00000377649.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394089.6"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000857081.1",
          "protein_id": "ENSP00000527140.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
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          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857081.1"
        },
        {
          "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": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000857082.1",
          "protein_id": "ENSP00000527141.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000857085.1",
          "protein_id": "ENSP00000527144.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": null,
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          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000857085.1"
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 9,
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          "intron_rank_end": null,
          "gene_symbol": "RARA",
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          "hgvs_c": "c.179-3622C>A",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "RARA",
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          "hgvs_c": "c.179-3622C>A",
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          "transcript": "ENST00000857087.1",
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          "cds_start": null,
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        {
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          "intron_rank": 1,
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          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
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          "transcript": "ENST00000857088.1",
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          "cds_start": null,
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        {
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        {
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          "canonical": false,
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
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          "transcript": "ENST00000920591.1",
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        {
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          "gene_symbol": "RARA",
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          "hgvs_c": "c.179-3622C>A",
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          "transcript": "ENST00000951717.1",
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          "gene_symbol": "RARA",
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        },
        {
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARA",
          "gene_hgnc_id": 9864,
          "hgvs_c": "c.179-3622C>A",
          "hgvs_p": null,
          "transcript": "ENST00000920590.1",
          "protein_id": "ENSP00000590649.1",
          "transcript_support_level": null,
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          "aa_length": 416,
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          "cds_length": 1251,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920590.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "exon_count": 7,
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      "bayesdelnoaf_score": -0.81,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_000964.4",
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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
}