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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: 8-15592786-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=15592786&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 15592786,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000503731.6",
      "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_006765.4",
          "protein_id": "NP_006756.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3697,
          "mane_select": "ENST00000503731.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "ENST00000503731.6",
          "protein_id": "ENSP00000424544.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3697,
          "mane_select": "NM_006765.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382020.8",
          "protein_id": "ENSP00000371450.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 347,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_001413679.1",
          "protein_id": "NP_001400608.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 408,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1227,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4414,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_001413684.1",
          "protein_id": "NP_001400613.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_001413673.1",
          "protein_id": "NP_001400602.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 359,
          "cds_start": -4,
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          "cds_length": 1080,
          "cdna_start": null,
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          "cdna_length": 1444,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_001413686.1",
          "protein_id": "NP_001400615.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 351,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1056,
          "cdna_start": null,
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          "cdna_length": 2851,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_001413683.1",
          "protein_id": "NP_001400612.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": 2848,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TUSC3",
          "gene_hgnc_id": 30242,
          "hgvs_c": "c.139-30294G>A",
          "hgvs_p": null,
          "transcript": "NM_001356429.2",
          "protein_id": "NP_001343358.1",
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        {
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          "gene_symbol": "TUSC3",
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          "hgvs_c": "c.139-30294G>A",
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          "transcript": "NM_001413583.1",
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          "transcript_support_level": null,
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