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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: 12-71921202-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=71921202&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 71921202,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_022771.6",
      "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": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1717-166T>C",
          "hgvs_p": null,
          "transcript": "NM_001146213.3",
          "protein_id": "NP_001139685.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000485960.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001146213.3"
        },
        {
          "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": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1717-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000485960.7",
          "protein_id": "ENSP00000420678.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001146213.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000485960.7"
        },
        {
          "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": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1768-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000550746.5",
          "protein_id": "ENSP00000448182.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000550746.5"
        },
        {
          "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": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "n.*1131-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000462788.6",
          "protein_id": "ENSP00000418467.2",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000462788.6"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "n.883-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000546450.1",
          "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": "ENST00000546450.1"
        },
        {
          "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": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1768-166T>C",
          "hgvs_p": null,
          "transcript": "NM_022771.6",
          "protein_id": "NP_073608.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022771.6"
        },
        {
          "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": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1717-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000867028.1",
          "protein_id": "ENSP00000537087.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867028.1"
        },
        {
          "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": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1741-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000319106.12",
          "protein_id": "ENSP00000318262.6",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2049,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000319106.12"
        },
        {
          "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": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1735-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000867021.1",
          "protein_id": "ENSP00000537080.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 680,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2043,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867021.1"
        },
        {
          "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": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1711-166T>C",
          "hgvs_p": null,
          "transcript": "NM_001385848.1",
          "protein_id": "NP_001372777.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 672,
          "cds_start": null,
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          "cds_length": 2019,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_count": 17,
          "intron_rank": 15,
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          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1711-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000921411.1",
          "protein_id": "ENSP00000591470.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": null,
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          "cdna_start": null,
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          "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": [
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          "exon_rank": null,
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          "intron_rank": 16,
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          "gene_symbol": "TBC1D15",
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          "hgvs_c": "c.1708-166T>C",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "hgvs_c": "c.1717-166T>C",
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        {
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1684-166T>C",
          "hgvs_p": null,
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          "protein_id": "NP_001372778.1",
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        {
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          "intron_rank": 15,
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          "gene_symbol": "TBC1D15",
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          "hgvs_c": "c.1657-166T>C",
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          "transcript": "NM_001385850.1",
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        {
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          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1657-166T>C",
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          "transcript": "ENST00000921412.1",
          "protein_id": "ENSP00000591471.1",
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        {
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          "gene_symbol": "TBC1D15",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D15",
          "gene_hgnc_id": 25694,
          "hgvs_c": "c.1642-166T>C",
          "hgvs_p": null,
          "transcript": "ENST00000867022.1",
          "protein_id": "ENSP00000537081.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          "protein_coding": true,
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          "consequences": [
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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.