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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: 3-17417089-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=17417089&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 17417089,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001134381.2",
      "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "NM_001349074.2",
          "protein_id": "NP_001336003.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6500,
          "mane_select": "ENST00000696125.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349074.2"
        },
        {
          "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696125.1",
          "protein_id": "ENSP00000512418.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6500,
          "mane_select": "NM_001349074.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696125.1"
        },
        {
          "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": 24,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "ENST00000446818.6",
          "protein_id": "ENSP00000402935.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446818.6"
        },
        {
          "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": 22,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "ENST00000253692.11",
          "protein_id": "ENSP00000253692.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000253692.11"
        },
        {
          "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": 22,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "ENST00000429383.8",
          "protein_id": "ENSP00000398127.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000429383.8"
        },
        {
          "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": 24,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "NM_001134381.2",
          "protein_id": "NP_001127853.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 817,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 6513,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001134381.2"
        },
        {
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "NM_001349073.2",
          "protein_id": "NP_001336002.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": null,
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          "cds_length": 2454,
          "cdna_start": null,
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          "cdna_length": 6435,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349073.2"
        },
        {
          "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.168-10563C>G",
          "hgvs_p": null,
          "transcript": "NM_001349075.2",
          "protein_id": "NP_001336004.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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          "gene_symbol": "TBC1D5",
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          "transcript": "ENST00000907031.1",
          "protein_id": "ENSP00000577090.1",
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        {
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      "computational_score_selected": -0.8999999761581421,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "phylop100way_prediction": "Benign",
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      "spliceai_max_prediction": "Benign",
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
          "transcript": "NM_001134381.2",
          "gene_symbol": "TBC1D5",
          "hgnc_id": 19166,
          "effects": [
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          "hgvs_c": "c.168-10563C>G",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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