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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: 3-11358775-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11358775&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 11358775,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_006395.3",
      "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "NM_001349232.2",
          "protein_id": "NP_001336161.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000693202.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349232.2"
        },
        {
          "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000693202.1",
          "protein_id": "ENSP00000510336.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001349232.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000693202.1"
        },
        {
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000354449.7",
          "protein_id": "ENSP00000346437.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354449.7"
        },
        {
          "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": 13,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000354956.9",
          "protein_id": "ENSP00000347042.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 676,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2031,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354956.9"
        },
        {
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1491+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000891232.1",
          "protein_id": "ENSP00000561291.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891232.1"
        },
        {
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "NM_001349233.2",
          "protein_id": "NP_001336162.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349233.2"
        },
        {
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "NM_001349234.2",
          "protein_id": "NP_001336163.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349234.2"
        },
        {
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "NM_001349235.2",
          "protein_id": "NP_001336164.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349235.2"
        },
        {
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "NM_006395.3",
          "protein_id": "NP_006386.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006395.3"
        },
        {
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000685771.1",
          "protein_id": "ENSP00000509725.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685771.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000891233.1",
          "protein_id": "ENSP00000561292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 703,
          "cds_start": null,
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          "cds_length": 2112,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891233.1"
        },
        {
          "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": 20,
          "intron_rank": 14,
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          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
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          "transcript": "ENST00000891234.1",
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
          "aa_ref": null,
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          "consequences": [
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          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
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          "transcript": "ENST00000911856.1",
          "protein_id": "ENSP00000581915.1",
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        {
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          "exon_count": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000968356.1",
          "protein_id": "ENSP00000638415.1",
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        {
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        {
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          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
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          "transcript": "NM_001136031.3",
          "protein_id": "NP_001129503.2",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1479+163C>A",
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          "transcript": "ENST00000891235.1",
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        {
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          ],
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          "gene_symbol": "ATG7",
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          "hgvs_c": "c.1362+163C>A",
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          ],
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          "exon_count": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ATG7",
          "gene_hgnc_id": 16935,
          "hgvs_c": "c.1362+163C>A",
          "hgvs_p": null,
          "transcript": "ENST00000911854.1",
          "protein_id": "ENSP00000581913.1",
          "transcript_support_level": null,
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          "aa_length": 664,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
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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.