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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: 1-21616643-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21616643&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 21616643,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000374765.9",
      "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": 25,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null,
          "transcript": "NM_002885.4",
          "protein_id": "NP_002876.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3322,
          "mane_select": "ENST00000374765.9",
          "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": 25,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null,
          "transcript": "ENST00000374765.9",
          "protein_id": "ENSP00000363897.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3322,
          "mane_select": "NM_002885.4",
          "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null,
          "transcript": "ENST00000374763.6",
          "protein_id": "ENSP00000363895.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3334,
          "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": 25,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.483+663G>A",
          "hgvs_p": null,
          "transcript": "ENST00000495204.5",
          "protein_id": "ENSP00000434033.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2489,
          "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": 27,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null,
          "transcript": "ENST00000542643.6",
          "protein_id": "ENSP00000441661.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3426,
          "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": 25,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null,
          "transcript": "NM_001388200.1",
          "protein_id": "NP_001375129.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 842,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2529,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3534,
          "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": 25,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null,
          "transcript": "NM_001388201.1",
          "protein_id": "NP_001375130.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3510,
          "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": 24,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.483+663G>A",
          "hgvs_p": null,
          "transcript": "NM_001388296.1",
          "protein_id": "NP_001375225.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 821,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2466,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3295,
          "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": 26,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.483+663G>A",
          "hgvs_p": null,
          "transcript": "NM_001388295.1",
          "protein_id": "NP_001375224.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 812,
          "cds_start": -4,
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          "cds_length": 2439,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": 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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          "exon_count": 26,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RAP1GAP",
          "gene_hgnc_id": 9858,
          "hgvs_c": "c.483+663G>A",
          "hgvs_p": null,
          "transcript": "NM_001388294.1",
          "protein_id": "NP_001375223.1",
          "transcript_support_level": null,
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          "aa_length": 804,
          "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": "RAP1GAP",
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          "cdna_start": null,
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        {
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          "intron_rank": 7,
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          "gene_symbol": "RAP1GAP",
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        {
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          "gene_symbol": "RAP1GAP",
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        {
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          "exon_count": 24,
          "intron_rank": 7,
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          "gene_symbol": "RAP1GAP",
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      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000374765.9",
          "gene_symbol": "RAP1GAP",
          "hgnc_id": 9858,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.291+663G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}