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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: 1-77623714-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77623714&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 77623714,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000370801.8",
      "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_015534.6",
          "protein_id": "NP_056349.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6412,
          "mane_select": "ENST00000370801.8",
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "ENST00000370801.8",
          "protein_id": "ENSP00000359837.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6412,
          "mane_select": "NM_015534.6",
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.23+15735A>G",
          "hgvs_p": null,
          "transcript": "ENST00000370798.5",
          "protein_id": "ENSP00000359834.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2468,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "n.72+8136A>G",
          "hgvs_p": null,
          "transcript": "ENST00000481346.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4500,
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_001376146.1",
          "protein_id": "NP_001363075.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6475,
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_001376147.1",
          "protein_id": "NP_001363076.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6412,
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_001376148.1",
          "protein_id": "NP_001363077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6472,
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_001376149.1",
          "protein_id": "NP_001363078.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 902,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2709,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6409,
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_001376151.1",
          "protein_id": "NP_001363080.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 902,
          "cds_start": -4,
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          "cds_length": 2709,
          "cdna_start": null,
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          "cdna_length": 6255,
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ZZZ3",
          "gene_hgnc_id": 24523,
          "hgvs_c": "c.1505+8136A>G",
          "hgvs_p": null,
          "transcript": "NM_001376153.1",
          "protein_id": "NP_001363082.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 902,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 15,
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          "gene_symbol": "ZZZ3",
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          "hgvs_c": "c.1505+8136A>G",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "intron_rank": 4,
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          "gene_symbol": "ZZZ3",
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          "gene_symbol": "ZZZ3",
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          "gene_symbol": "ZZZ3",
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        {
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        {
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          "exon_count": 14,
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          "gene_symbol": "ZZZ3",
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          "hgvs_c": "c.23+15735A>G",
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      "gene_symbol": "ZZZ3",
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      "gnomad_exomes_af": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.8899999856948853,
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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": 0.805,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -12,
      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "score": -12,
          "benign_score": 12,
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          "verdict": "Benign",
          "transcript": "ENST00000370801.8",
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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
}