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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: 12-6444664-T-TGGG (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6444664&ref=T&alt=TGGG&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 6444664,
      "ref": "T",
      "alt": "TGGG",
      "effect": "intron_variant",
      "transcript": "NM_001413266.1",
      "consequences": [
        {
          "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": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.485-948_485-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000399492.6",
          "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": 1094,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.814-948_814-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000417058.6",
          "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": 1497,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.1980-948_1980-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000537003.2",
          "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": 2603,
          "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": "CD27",
          "gene_hgnc_id": 11922,
          "hgvs_c": "c.-315+552_-315+554dupGGG",
          "hgvs_p": null,
          "transcript": "NM_001413266.1",
          "protein_id": "NP_001400195.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 110,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 333,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1196,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CD27",
          "gene_hgnc_id": 11922,
          "hgvs_c": "c.-403+552_-403+554dupGGG",
          "hgvs_p": null,
          "transcript": "NM_001413267.1",
          "protein_id": "NP_001400196.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 110,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 333,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1284,
          "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": "CD27",
          "gene_hgnc_id": 11922,
          "hgvs_c": "c.-315+64_-315+66dupGGG",
          "hgvs_p": null,
          "transcript": "NM_001413268.1",
          "protein_id": "NP_001400197.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 110,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 333,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1321,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.1517-948_1517-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000535639.5",
          "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": 2364,
          "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": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.1079-948_1079-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000545339.5",
          "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": 1766,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.933-948_933-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000653829.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.1031-948_1031-947insCCC",
          "hgvs_p": null,
          "transcript": "ENST00000655473.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1672,
          "mane_select": null,
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          "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": 4,
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          "gene_symbol": "CD27-AS1",
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          "hgvs_c": "n.1980-948_1980-947insCCC",
          "hgvs_p": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD27-AS1",
          "gene_hgnc_id": 43896,
          "hgvs_c": "n.1118-948_1118-947insCCC",
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          "canonical": false,
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          "gene_symbol": "CD27-AS1",
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          "hgvs_c": "n.1031-948_1031-947insCCC",
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          "gene_symbol": "CD27-AS1",
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          "hgvs_c": "n.439-948_439-947insCCC",
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        {
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        {
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          "gene_symbol": "CD27-AS1",
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          "hgvs_c": "n.440+2296_440+2297insCCC",
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        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
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          "gene_symbol": "CD27-AS1",
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        {
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          ],
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          "intron_rank": 5,
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          "gene_symbol": "CD27-AS1",
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          "hgvs_c": "n.461+2296_461+2297insCCC",
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        },
        {
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          "cds_start": -4,
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        {
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        },
        {
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          "gene_symbol": "CD27-AS1",
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        },
        {
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          "exon_count": 6,
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          "gene_symbol": "CD27-AS1",
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      ],
      "gene_symbol": "CD27",
      "gene_hgnc_id": 11922,
      "dbsnp": "rs57782770",
      "frequency_reference_population": 0.00015469862,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 11,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.000154699,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 11,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": -2.065,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BS1",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BS1"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001413266.1",
          "gene_symbol": "CD27",
          "hgnc_id": 11922,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-315+552_-315+554dupGGG",
          "hgvs_p": null
        },
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000399492.6",
          "gene_symbol": "CD27-AS1",
          "hgnc_id": 43896,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.485-948_485-947insCCC",
          "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
}