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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: 17-45408425-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45408425&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 45408425,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001282290.2",
      "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": 20,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "NM_001282290.2",
          "protein_id": "NP_001269219.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000685559.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282290.2"
        },
        {
          "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": 20,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000685559.1",
          "protein_id": "ENSP00000509127.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001282290.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685559.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.-557C>T",
          "hgvs_p": null,
          "transcript": "XM_047435551.1",
          "protein_id": "XP_047291507.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047435551.1"
        },
        {
          "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": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000868964.1",
          "protein_id": "ENSP00000539023.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868964.1"
        },
        {
          "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": 20,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000868965.1",
          "protein_id": "ENSP00000539024.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868965.1"
        },
        {
          "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": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000868966.1",
          "protein_id": "ENSP00000539025.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868966.1"
        },
        {
          "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": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000868967.1",
          "protein_id": "ENSP00000539026.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868967.1"
        },
        {
          "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": 19,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000962084.1",
          "protein_id": "ENSP00000632143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962084.1"
        },
        {
          "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": 19,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000962085.1",
          "protein_id": "ENSP00000632144.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 889,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2670,
          "cdna_start": null,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962085.1"
        },
        {
          "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": 20,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000962086.1",
          "protein_id": "ENSP00000632145.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 889,
          "cds_start": null,
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          "cds_length": 2670,
          "cdna_start": null,
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        {
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          "exon_count": 20,
          "intron_rank": 4,
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          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
          "hgvs_p": null,
          "transcript": "ENST00000962087.1",
          "protein_id": "ENSP00000632146.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 889,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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          "gene_symbol": "ARHGAP27",
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        {
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          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
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          "transcript": "ENST00000532891.6",
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        {
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          "exon_count": 18,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.658-2342C>T",
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        {
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          "intron_rank": 4,
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          "gene_symbol": "ARHGAP27",
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          "transcript": "ENST00000868963.1",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.57+1807C>T",
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          "transcript": "NM_001385385.1",
          "protein_id": "NP_001372314.1",
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        {
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": 1,
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          "gene_symbol": "ARHGAP27",
          "gene_hgnc_id": 31813,
          "hgvs_c": "c.57+1807C>T",
          "hgvs_p": null,
          "transcript": "NM_001385387.1",
          "protein_id": "NP_001372316.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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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.