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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: 10-11011180-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11011180&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 11011180,
      "ref": "A",
      "alt": "C",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "XR_007062052.1",
      "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "ENST00000416382.6",
          "protein_id": "ENSP00000406451.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6894,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CELF2-AS4",
          "gene_hgnc_id": 58359,
          "hgvs_c": "n.77T>G",
          "hgvs_p": null,
          "transcript": "XR_007062052.1",
          "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": 1254,
          "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": 16,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.146+91181A>C",
          "hgvs_p": null,
          "transcript": "NM_001326325.2",
          "protein_id": "NP_001313254.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7933,
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "NM_001326336.2",
          "protein_id": "NP_001313265.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9297,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+91181A>C",
          "hgvs_p": null,
          "transcript": "NM_001326327.2",
          "protein_id": "NP_001313256.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7885,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+91181A>C",
          "hgvs_p": null,
          "transcript": "ENST00000637215.1",
          "protein_id": "ENSP00000490185.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2724,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+91181A>C",
          "hgvs_p": null,
          "transcript": "NM_001326326.2",
          "protein_id": "NP_001313255.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7867,
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.89+91181A>C",
          "hgvs_p": null,
          "transcript": "ENST00000636488.1",
          "protein_id": "ENSP00000489955.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3908,
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "NM_001326331.2",
          "protein_id": "NP_001313260.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
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          "cdna_length": 7885,
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "NM_001394502.1",
          "protein_id": "NP_001381431.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
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          "cdna_length": 9243,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 1,
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "ENST00000631816.1",
          "protein_id": "ENSP00000488268.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1803,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "NM_001326335.2",
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          "cds_start": -4,
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          "cdna_start": null,
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        {
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          "strand": true,
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          "intron_rank": 1,
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
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          "transcript": "NM_001025077.3",
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        {
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          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+70726A>C",
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          "transcript": "NM_001326319.2",
          "protein_id": "NP_001313248.1",
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          "aa_length": 508,
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          "mane_select": null,
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        },
        {
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
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        {
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.53+5740A>C",
          "hgvs_p": null,
          "transcript": "ENST00000631460.1",
          "protein_id": "ENSP00000488582.1",
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          "feature": null
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          "canonical": false,
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          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 4,
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+91181A>C",
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          "transcript": "NM_001326323.2",
          "protein_id": "NP_001313252.1",
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        },
        {
          "aa_ref": 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": 16,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
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        },
        {
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
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          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+91181A>C",
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          "transcript": "NM_001326320.2",
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          "cdna_start": null,
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          "cdna_length": 7962,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CELF2",
          "gene_hgnc_id": 2550,
          "hgvs_c": "c.-20+91181A>C",
          "hgvs_p": null,
          "transcript": "NM_001326324.2",
          "protein_id": "NP_001313253.1",
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      "phylop100way_prediction": "Benign",
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      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "verdict": "Benign",
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        {
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          ],
          "verdict": "Benign",
          "transcript": "NM_001326325.2",
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          "pathogenic_score": 0,
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            "BA1"
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          "verdict": "Benign",
          "transcript": "ENST00000437825.1",
          "gene_symbol": "ENSG00000228027",
          "hgnc_id": 58359,
          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.-61T>G",
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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
}