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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: 8-18222931-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18222931&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 18222931,
      "ref": "A",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001160175.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_000662.8",
          "protein_id": "NP_000653.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000307719.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000662.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "ENST00000307719.9",
          "protein_id": "ENSP00000307218.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000662.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000307719.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "ENST00000518029.5",
          "protein_id": "ENSP00000428270.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518029.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160175.4",
          "protein_id": "NP_001153647.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160175.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160176.4",
          "protein_id": "NP_001153648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160176.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001291962.2",
          "protein_id": "NP_001278891.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001291962.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "ENST00000545197.3",
          "protein_id": "ENSP00000443194.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000545197.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160170.4",
          "protein_id": "NP_001153642.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160170.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160171.4",
          "protein_id": "NP_001153643.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160171.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160172.4",
          "protein_id": "NP_001153644.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160172.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160173.4",
          "protein_id": "NP_001153645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160173.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
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          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160174.3",
          "protein_id": "NP_001153646.1",
          "transcript_support_level": null,
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          "aa_length": 290,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
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          "strand": true,
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            "3_prime_UTR_variant"
          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "NM_001160179.3",
          "protein_id": "NP_001153651.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 290,
          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "ENST00000517492.5",
          "protein_id": "ENSP00000429407.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          ],
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          "gene_symbol": "NAT1",
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          "hgvs_c": "c.*11A>T",
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          "biotype": "protein_coding",
          "feature": "ENST00000520546.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "ENST00000903000.1",
          "protein_id": "ENSP00000573059.1",
          "transcript_support_level": null,
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          "cds_start": 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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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "NAT1",
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          "hgvs_c": "c.*11A>T",
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          "transcript": "ENST00000903001.1",
          "protein_id": "ENSP00000573060.1",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "NAT1",
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        {
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "NAT1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAT1",
          "gene_hgnc_id": 7645,
          "hgvs_c": "c.*11A>T",
          "hgvs_p": null,
          "transcript": "ENST00000903004.1",
          "protein_id": "ENSP00000573063.1",
          "transcript_support_level": null,
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          "aa_length": 290,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903004.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
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}