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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: 11-47743354-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47743354&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47743354,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000263773.10",
      "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1456+599C>A",
          "hgvs_p": null,
          "transcript": "NM_015308.5",
          "protein_id": "NP_056123.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1017,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3054,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4035,
          "mane_select": "ENST00000263773.10",
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1456+599C>A",
          "hgvs_p": null,
          "transcript": "ENST00000263773.10",
          "protein_id": "ENSP00000263773.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1017,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3054,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4035,
          "mane_select": "NM_015308.5",
          "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": 18,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1681+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441100.1",
          "protein_id": "NP_001428029.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1092,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3279,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4237,
          "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": 18,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1681+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441101.1",
          "protein_id": "NP_001428030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1092,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3279,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4237,
          "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": 18,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1675+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441102.1",
          "protein_id": "NP_001428031.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1090,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3273,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4231,
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1462+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001318339.4",
          "protein_id": "NP_001305268.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4018,
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1369+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441103.1",
          "protein_id": "NP_001428032.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 988,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2967,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3925,
          "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": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1363+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441104.1",
          "protein_id": "NP_001428033.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 986,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3919,
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1177+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441105.1",
          "protein_id": "NP_001428034.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 924,
          "cds_start": -4,
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          "cds_length": 2775,
          "cdna_start": null,
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          "cdna_length": 3784,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 15,
          "intron_rank": 6,
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          "gene_symbol": "FNBP4",
          "gene_hgnc_id": 19752,
          "hgvs_c": "c.1132+599C>A",
          "hgvs_p": null,
          "transcript": "NM_001441106.1",
          "protein_id": "NP_001428035.1",
          "transcript_support_level": null,
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          "aa_length": 909,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "FNBP4",
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        {
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          "gene_symbol": "FNBP4",
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          "gene_symbol": "FNBP4",
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      "gnomad_genomes_ac": 1,
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      "gnomad_genomes_homalt": 0,
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      "computational_score_selected": -1,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -1,
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      "phylop100way_score": -0.616,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "benign_score": 4,
          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000263773.10",
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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
}