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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: 3-37054533-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37054533&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 37054533,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_006309.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1951-18A>G",
          "hgvs_p": null,
          "transcript": "NM_006309.4",
          "protein_id": "NP_006300.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 721,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000336686.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006309.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1951-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000336686.9",
          "protein_id": "ENSP00000338727.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 721,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006309.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000336686.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.988-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000354379.8",
          "protein_id": "ENSP00000346349.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354379.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "n.1795-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000460646.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000460646.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.2017-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000952917.1",
          "protein_id": "ENSP00000622976.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 743,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952917.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1975-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000952930.1",
          "protein_id": "ENSP00000622989.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952930.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1972-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000952867.1",
          "protein_id": "ENSP00000622926.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952867.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1972-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000952897.1",
          "protein_id": "ENSP00000622956.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952897.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1951-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000952783.1",
          "protein_id": "ENSP00000622842.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 721,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2166,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000952783.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1951-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000952786.1",
          "protein_id": "ENSP00000622845.1",
          "transcript_support_level": null,
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          "aa_length": 721,
          "cds_start": null,
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          "mane_select": null,
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        {
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          "strand": false,
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          "intron_rank_end": null,
          "gene_symbol": "LRRFIP2",
          "gene_hgnc_id": 6703,
          "hgvs_c": "c.1948-18A>G",
          "hgvs_p": null,
          "transcript": "ENST00000900394.1",
          "protein_id": "ENSP00000570453.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 720,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "gene_symbol": "LRRFIP2",
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        {
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        {
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          "gene_symbol": "LRRFIP2",
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          "gene_symbol": "LRRFIP2",
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          "transcript": "ENST00000952812.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
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      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.