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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: 6-158701052-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158701052&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 158701052,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000611299.5",
      "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": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "NM_001242394.2",
          "protein_id": "NP_001229323.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2851,
          "mane_select": "ENST00000611299.5",
          "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": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "ENST00000611299.5",
          "protein_id": "ENSP00000483936.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2851,
          "mane_select": "NM_001242394.2",
          "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": 19,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "NM_001242384.2",
          "protein_id": "NP_001229313.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2459,
          "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": 19,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "ENST00000360448.8",
          "protein_id": "ENSP00000353631.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2497,
          "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": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "NM_001009991.4",
          "protein_id": "NP_001009991.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2239,
          "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": 16,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "NM_001242395.2",
          "protein_id": "NP_001229324.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2647,
          "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": 16,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "ENST00000367081.7",
          "protein_id": "ENSP00000356048.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2692,
          "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": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.-224-6178G>A",
          "hgvs_p": null,
          "transcript": "NM_001318745.2",
          "protein_id": "NP_001305674.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 404,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1215,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2669,
          "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": 19,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "XM_006715606.4",
          "protein_id": "XP_006715669.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "consequences": [
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          "exon_count": 19,
          "intron_rank": 7,
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          "gene_symbol": "SYTL3",
          "gene_hgnc_id": 15587,
          "hgvs_c": "c.395-6178G>A",
          "hgvs_p": null,
          "transcript": "XM_011536254.3",
          "protein_id": "XP_011534556.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "SYTL3",
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        {
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          "gene_symbol": "SYTL3",
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      "gene_symbol": "SYTL3",
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      "gnomad_exomes_af": null,
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      "gnomad_genomes_homalt": 7249,
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      "computational_score_selected": -0.8999999761581421,
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      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "phylop100way_score": 0.025,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "score": -12,
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          "verdict": "Benign",
          "transcript": "ENST00000611299.5",
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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
}