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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: 8-144425879-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144425879&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 144425879,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_183057.3",
      "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
          "hgvs_p": null,
          "transcript": "NM_016208.4",
          "protein_id": "NP_057292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 948,
          "mane_select": "ENST00000292510.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016208.4"
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
          "hgvs_p": null,
          "transcript": "ENST00000292510.6",
          "protein_id": "ENSP00000292510.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 948,
          "mane_select": "NM_016208.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000292510.6"
        },
        {
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
          "hgvs_p": null,
          "transcript": "ENST00000377348.6",
          "protein_id": "ENSP00000366565.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 233,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 702,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1097,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377348.6"
        },
        {
          "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": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
          "hgvs_p": null,
          "transcript": "ENST00000526054.5",
          "protein_id": "ENSP00000434064.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 892,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000526054.5"
        },
        {
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
          "hgvs_p": null,
          "transcript": "ENST00000531032.5",
          "protein_id": "ENSP00000434393.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 484,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 573,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000531032.5"
        },
        {
          "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": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.-15A>G",
          "hgvs_p": null,
          "transcript": "XM_047421846.1",
          "protein_id": "XP_047277802.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 183,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047421846.1"
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.227+43A>G",
          "hgvs_p": null,
          "transcript": "ENST00000969323.1",
          "protein_id": "ENSP00000639382.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 245,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 738,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969323.1"
        },
        {
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
          "hgvs_p": null,
          "transcript": "ENST00000909919.1",
          "protein_id": "ENSP00000579978.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 240,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 723,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909919.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-62A>G",
          "hgvs_p": null,
          "transcript": "ENST00000969315.1",
          "protein_id": "ENSP00000639374.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": null,
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          "cds_length": 711,
          "cdna_start": null,
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          "cdna_length": 1112,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969315.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.147-107A>G",
          "hgvs_p": null,
          "transcript": "ENST00000909914.1",
          "protein_id": "ENSP00000579973.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "mane_select": null,
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        {
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          "consequences": [
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          "gene_symbol": "VPS28",
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          "hgvs_c": "c.147-107A>G",
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          "transcript": "ENST00000909917.1",
          "protein_id": "ENSP00000579976.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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        {
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          "gene_symbol": "VPS28",
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          "gene_symbol": "VPS28",
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          "gene_symbol": "VPS28",
          "gene_hgnc_id": 18178,
          "hgvs_c": "c.105-107A>G",
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          "transcript": "ENST00000969316.1",
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          "mane_select": null,
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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.