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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: 8-26348561-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=26348561&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 26348561,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000380737.8",
      "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": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.181-5907C>G",
          "hgvs_p": null,
          "transcript": "NM_002717.4",
          "protein_id": "NP_002708.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3923,
          "mane_select": "ENST00000380737.8",
          "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": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.181-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000380737.8",
          "protein_id": "ENSP00000370113.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3923,
          "mane_select": "NM_002717.4",
          "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": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.211-5907C>G",
          "hgvs_p": null,
          "transcript": "NM_001177591.2",
          "protein_id": "NP_001171062.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3672,
          "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": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.211-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000315985.7",
          "protein_id": "ENSP00000325074.7",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1878,
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.-262-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000665949.1",
          "protein_id": "ENSP00000499648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2153,
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.-297-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000660435.1",
          "protein_id": "ENSP00000499441.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2128,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.-77-12540C>G",
          "hgvs_p": null,
          "transcript": "ENST00000524169.5",
          "protein_id": "ENSP00000430320.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 196,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 784,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.-297-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000521557.5",
          "protein_id": "ENSP00000428165.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 13,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 42,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 601,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.-297-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000523925.5",
          "protein_id": "ENSP00000428800.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 4,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 16,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 529,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "c.-297-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000522535.5",
          "protein_id": "ENSP00000428705.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 10,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.*145-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000518254.5",
          "protein_id": "ENSP00000428164.1",
          "transcript_support_level": 5,
          "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": 755,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.181-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000518397.5",
          "protein_id": "ENSP00000429279.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.268-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000519439.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 658,
          "mane_select": null,
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.396-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000519636.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 575,
          "mane_select": null,
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          "feature": null
        },
        {
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          ],
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          "intron_rank": 4,
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          "gene_symbol": "PPP2R2A",
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          "hgvs_c": "n.*164-5907C>G",
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        {
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          "exon_count": 4,
          "intron_rank": 3,
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          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.497-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000521095.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.321-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000521484.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
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          "cdna_length": 556,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.324-2038C>G",
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          "transcript": "ENST00000522482.5",
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        },
        {
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          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.218-5907C>G",
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          "transcript": "ENST00000523964.5",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 3,
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          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.335-5907C>G",
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          "transcript": "ENST00000524099.5",
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          "cdna_start": null,
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          "cdna_length": 569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R2A",
          "gene_hgnc_id": 9304,
          "hgvs_c": "n.234-5907C>G",
          "hgvs_p": null,
          "transcript": "ENST00000657943.1",
          "protein_id": null,
          "transcript_support_level": null,
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      "gnomad_genomes_ac": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.9300000071525574,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
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      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.93,
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      "spliceai_max_score": 0,
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      "acmg_score": -2,
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      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
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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
}