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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: 3-119908400-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=119908400&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 119908400,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000264235.13",
      "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "NM_001146156.2",
          "protein_id": "NP_001139628.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7743,
          "mane_select": "ENST00000264235.13",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "ENST00000264235.13",
          "protein_id": "ENSP00000264235.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7743,
          "mane_select": "NM_001146156.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "ENST00000316626.6",
          "protein_id": "ENSP00000324806.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "ENST00000678439.1",
          "protein_id": "ENSP00000503868.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6714,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "NM_002093.4",
          "protein_id": "NP_002084.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "NM_001354596.2",
          "protein_id": "NP_001341525.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.716-2548A>G",
          "hgvs_p": null,
          "transcript": "ENST00000650344.2",
          "protein_id": "ENSP00000497956.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1731,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.389-2548A>G",
          "hgvs_p": null,
          "transcript": "ENST00000678561.1",
          "protein_id": "ENSP00000503494.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 223,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 673,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 673,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.193-31892A>G",
          "hgvs_p": null,
          "transcript": "ENST00000678787.1",
          "protein_id": "ENSP00000503398.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 95,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 288,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.84+38868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000678181.1",
          "protein_id": "ENSP00000504266.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 89,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 271,
          "cdna_start": null,
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          "cdna_length": 271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.111+14973A>G",
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          "transcript": "ENST00000679188.1",
          "protein_id": "ENSP00000504252.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 68,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 207,
          "cdna_start": null,
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          "cdna_length": 207,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.106+4304A>G",
          "hgvs_p": null,
          "transcript": "ENST00000677362.1",
          "protein_id": "ENSP00000503882.1",
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.85-31892A>G",
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          "transcript": "ENST00000679066.1",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "c.131+7644A>G",
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          "transcript": "ENST00000679206.1",
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          "mane_select": null,
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        {
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          "gene_symbol": "GSK3B",
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          "gene_symbol": "GSK3B",
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          "hgvs_c": "n.*108-2548A>G",
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          "transcript": "ENST00000676733.1",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "GSK3B",
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          "transcript": "ENST00000676887.1",
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        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "GSK3B",
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          "gene_symbol": "GSK3B",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSK3B",
          "gene_hgnc_id": 4617,
          "hgvs_c": "n.1185-2548A>G",
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      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "verdict": "Benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}