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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: 1-109750234-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109750234&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 109750234,
      "ref": "G",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_139053.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "NM_133181.4",
          "protein_id": "NP_573444.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000361965.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_133181.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000361965.9",
          "protein_id": "ENSP00000355255.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_133181.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361965.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000369805.7",
          "protein_id": "ENSP00000358820.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1785,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369805.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000361852.8",
          "protein_id": "ENSP00000354551.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361852.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888981.1",
          "protein_id": "ENSP00000559040.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888981.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888977.1",
          "protein_id": "ENSP00000559036.1",
          "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": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888977.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888985.1",
          "protein_id": "ENSP00000559044.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888985.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888976.1",
          "protein_id": "ENSP00000559035.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 645,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1938,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888976.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888982.1",
          "protein_id": "ENSP00000559041.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888982.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888983.1",
          "protein_id": "ENSP00000559042.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": null,
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          "cds_length": 1809,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000888983.1"
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
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          "exon_rank": 19,
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
          "hgvs_p": null,
          "transcript": "ENST00000888978.1",
          "protein_id": "ENSP00000559037.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": null,
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          "cds_length": 1806,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888978.1"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 19,
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "EPS8L3",
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          "hgvs_c": "c.*157C>A",
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          "cds_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "intron_rank": null,
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          "gene_symbol": "EPS8L3",
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          "hgvs_c": "c.*157C>A",
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          "transcript": "ENST00000888980.1",
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        {
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "EPS8L3",
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          "hgvs_c": "c.*157C>A",
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        {
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "EPS8L3",
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        {
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          "exon_count": 19,
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          "gene_symbol": "EPS8L3",
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          "hgvs_c": "c.*157C>A",
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          "transcript": "NM_024526.4",
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        {
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        {
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        {
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "EPS8L3",
          "gene_hgnc_id": 21297,
          "hgvs_c": "c.*157C>A",
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          "transcript": "ENST00000952210.1",
          "protein_id": "ENSP00000622269.1",
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          "cds_start": null,
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        {
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