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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: 7-95422338-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95422338&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 95422338,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_000305.3",
      "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "NM_000305.3",
          "protein_id": "NP_000296.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1610,
          "mane_select": "ENST00000222572.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000305.3"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000222572.8",
          "protein_id": "ENSP00000222572.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1610,
          "mane_select": "NM_000305.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000222572.8"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.208+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000633192.1",
          "protein_id": "ENSP00000488378.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000633192.1"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000633531.1",
          "protein_id": "ENSP00000488838.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000633531.1"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000433091.6",
          "protein_id": "ENSP00000404622.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1726,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433091.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "n.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000446142.5",
          "protein_id": "ENSP00000405211.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000446142.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "n.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000455123.5",
          "protein_id": "ENSP00000414515.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000455123.5"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000951228.1",
          "protein_id": "ENSP00000621287.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1639,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951228.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000857127.1",
          "protein_id": "ENSP00000527186.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 1062,
          "cdna_start": null,
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          "cdna_length": 1620,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857127.1"
        },
        {
          "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": 9,
          "intron_rank": 2,
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          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.145+2177C>G",
          "hgvs_p": null,
          "transcript": "ENST00000951226.1",
          "protein_id": "ENSP00000621285.1",
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          "aa_end": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "PON2",
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          "hgvs_c": "c.145+2177C>G",
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          "transcript": "ENST00000951227.1",
          "protein_id": "ENSP00000621286.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 349,
          "cds_start": null,
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          "mane_select": null,
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        {
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        {
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          "gene_symbol": "PON2",
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        {
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          "gene_symbol": "PON2",
          "gene_hgnc_id": 9205,
          "hgvs_c": "c.-183-6041C>G",
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          "transcript": "ENST00000469926.5",
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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.