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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: 14-76371394-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=76371394&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 76371394,
      "ref": "G",
      "alt": "A",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000505752.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "n.-324G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505752.6",
          "protein_id": "ENSP00000423004.1",
          "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": 2195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "n.-324G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505752.6",
          "protein_id": "ENSP00000423004.1",
          "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": 2195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "c.-324G>A",
          "hgvs_p": null,
          "transcript": "NM_004452.4",
          "protein_id": "NP_004443.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3090,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "c.-324G>A",
          "hgvs_p": null,
          "transcript": "ENST00000380887.7",
          "protein_id": "ENSP00000370270.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3014,
          "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": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "c.2+60478G>A",
          "hgvs_p": null,
          "transcript": "NM_001411038.1",
          "protein_id": "NP_001397967.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4834,
          "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": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "c.2+60478G>A",
          "hgvs_p": null,
          "transcript": "ENST00000512784.6",
          "protein_id": "ENSP00000424992.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1537,
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ESRRB",
          "gene_hgnc_id": 3473,
          "hgvs_c": "c.-67-36149G>A",
          "hgvs_p": null,
          "transcript": "XM_047431079.1",
          "protein_id": "XP_047287035.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3478,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ESRRB",
      "gene_hgnc_id": 3473,
      "dbsnp": "rs79948698",
      "frequency_reference_population": 0.010268532,
      "hom_count_reference_population": 26,
      "allele_count_reference_population": 1564,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": 0.0102685,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": 1564,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 26,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "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": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.918,
      "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": -9,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
      "acmg_by_gene": [
        {
          "score": -9,
          "benign_score": 9,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BS1_Supporting",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000505752.6",
          "gene_symbol": "ESRRB",
          "hgnc_id": 3473,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "n.-324G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 35",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 35",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}