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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: 2-217310749-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=217310749&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 217310749,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000474063.5",
      "consequences": [
        {
          "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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TESHL",
          "gene_hgnc_id": 52740,
          "hgvs_c": "n.394+7964A>G",
          "hgvs_p": null,
          "transcript": "ENST00000452813.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 557,
          "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": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.2233+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000474063.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 3078,
          "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": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.3065+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000486365.6",
          "protein_id": null,
          "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": 3910,
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.1220+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000654616.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2061,
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TESHL",
          "gene_hgnc_id": 52740,
          "hgvs_c": "n.1429-7120A>G",
          "hgvs_p": null,
          "transcript": "ENST00000655995.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3115,
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TESHL",
          "gene_hgnc_id": 52740,
          "hgvs_c": "n.803+6888A>G",
          "hgvs_p": null,
          "transcript": "ENST00000657418.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2310,
          "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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.1091+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000663156.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1928,
          "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": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.3152+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000663562.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3959,
          "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": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TESHL",
          "gene_hgnc_id": 52740,
          "hgvs_c": "n.1947-7120A>G",
          "hgvs_p": null,
          "transcript": "ENST00000695932.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3527,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.1331+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000744938.1",
          "protein_id": null,
          "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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          "cdna_length": 2172,
          "mane_select": null,
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          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.914+7217T>C",
          "hgvs_p": null,
          "transcript": "ENST00000744939.1",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TESHL",
          "gene_hgnc_id": 52740,
          "hgvs_c": "n.405-7120A>G",
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          "intron_rank": 12,
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          "gene_symbol": "DIRC3",
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        {
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          "gene_symbol": "DIRC3-AS1",
          "gene_hgnc_id": 50636,
          "hgvs_c": "n.400+7964A>G",
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        {
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          ],
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          "intron_rank": 14,
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          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.4304+7217T>C",
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        {
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          "gene_symbol": "DIRC3",
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          "gene_symbol": "DIRC3",
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          "hgvs_c": "n.2543+7153T>C",
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          "gene_symbol": "DIRC3",
          "gene_hgnc_id": 17805,
          "hgvs_c": "n.2119+7217T>C",
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          "transcript": "NR_186300.1",
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          ],
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      "gnomad_exomes_af": null,
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      "gnomad_genomes_ac": 112051,
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      "gnomad_genomes_homalt": 41644,
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      "computational_score_selected": -0.9200000166893005,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.92,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.887,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
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          "benign_score": 12,
          "pathogenic_score": 0,
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          "verdict": "Benign",
          "transcript": "ENST00000474063.5",
          "gene_symbol": "DIRC3",
          "hgnc_id": 17805,
          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.2233+7217T>C",
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        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
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            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000452813.1",
          "gene_symbol": "TESHL",
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          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.394+7964A>G",
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        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NR_133642.1",
          "gene_symbol": "DIRC3-AS1",
          "hgnc_id": 50636,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.400+7964A>G",
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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
}