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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: 15-23000076-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=23000076&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 23000076,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001354372.2",
      "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3029-210G>C",
          "hgvs_p": null,
          "transcript": "NM_052903.6",
          "protein_id": "NP_443135.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000615383.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_052903.6"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3029-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000615383.5",
          "protein_id": "ENSP00000480316.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_052903.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000615383.5"
        },
        {
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3031+493G>C",
          "hgvs_p": null,
          "transcript": "NM_001354372.2",
          "protein_id": "NP_001341301.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1061,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354372.2"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3028+493G>C",
          "hgvs_p": null,
          "transcript": "NM_001354373.2",
          "protein_id": "NP_001341302.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1060,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3183,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354373.2"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2986+493G>C",
          "hgvs_p": null,
          "transcript": "NM_001354374.2",
          "protein_id": "NP_001341303.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1046,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3141,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354374.2"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3028+493G>C",
          "hgvs_p": null,
          "transcript": "NM_001354375.2",
          "protein_id": "NP_001341304.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1033,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3102,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354375.2"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3028+493G>C",
          "hgvs_p": null,
          "transcript": "NM_001354376.2",
          "protein_id": "NP_001341305.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1030,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3093,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354376.2"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3032-210G>C",
          "hgvs_p": null,
          "transcript": "NM_001354377.2",
          "protein_id": "NP_001341306.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1025,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3078,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354377.2"
        },
        {
          "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": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3005-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000959740.1",
          "protein_id": "ENSP00000629799.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1016,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3051,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959740.1"
        },
        {
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2978-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000939427.1",
          "protein_id": "ENSP00000609486.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1007,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3024,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000939427.1"
        },
        {
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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": 22,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2942-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000861886.1",
          "protein_id": "ENSP00000531945.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 995,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2988,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000861886.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
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          "hgvs_c": "c.2906-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000939428.1",
          "protein_id": "ENSP00000609487.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 983,
          "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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          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2846-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000861884.1",
          "protein_id": "ENSP00000531943.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          ],
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          "exon_count": 22,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2840-210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000861885.1",
          "protein_id": "ENSP00000531944.1",
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        {
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          "gene_symbol": "TUBGCP5",
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          "transcript": "XM_011543868.3",
          "protein_id": "XP_011542170.1",
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 23,
          "intron_rank": 22,
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          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.3031+493G>C",
          "hgvs_p": null,
          "transcript": "XM_011543870.3",
          "protein_id": "XP_011542172.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "intron_rank": 19,
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          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2590+493G>C",
          "hgvs_p": null,
          "transcript": "XM_017021894.2",
          "protein_id": "XP_016877383.1",
          "transcript_support_level": null,
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          "hgvs_c": "c.2590+493G>C",
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        {
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "TUBGCP5",
          "gene_hgnc_id": 18600,
          "hgvs_c": "c.2591-210G>C",
          "hgvs_p": null,
          "transcript": "XM_047432131.1",
          "protein_id": "XP_047288087.1",
          "transcript_support_level": null,
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          "aa_length": 878,
          "cds_start": null,
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        },
        {
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      ],
      "gene_symbol": "TUBGCP5",
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -1,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -1,
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      "phylop100way_score": -0.015,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_001354372.2",
          "gene_symbol": "TUBGCP5",
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          "effects": [
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          "inheritance_mode": "AR",
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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
}