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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: 9-13106599-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13106599&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 13106599,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000319217.12",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "NM_001378778.1",
          "protein_id": "NP_001365707.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2070,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6213,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7821,
          "mane_select": "ENST00000319217.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "ENST00000319217.12",
          "protein_id": "ENSP00000320006.7",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2070,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6213,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7821,
          "mane_select": "NM_001378778.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "ENST00000541718.5",
          "protein_id": "ENSP00000439807.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2041,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6126,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "n.3079A>G",
          "hgvs_p": null,
          "transcript": "ENST00000319198.10",
          "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": 3180,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "n.2139A>G",
          "hgvs_p": null,
          "transcript": "ENST00000381017.6",
          "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": 3032,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "n.6466A>G",
          "hgvs_p": null,
          "transcript": "ENST00000539508.5",
          "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,
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          "cdna_length": 6574,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "NM_001375413.1",
          "protein_id": "NP_001362342.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2103,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "NM_001330637.2",
          "protein_id": "NP_001317566.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2070,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6213,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7657,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "NM_003829.5",
          "protein_id": "NP_003820.2",
          "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": 7734,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 46,
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          "exon_count": 46,
          "intron_rank": null,
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          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "NM_001261406.2",
          "protein_id": "NP_001248335.1",
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          "aa_start": null,
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        {
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          "intron_rank": null,
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          "canonical": false,
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          "exon_count": 46,
          "intron_rank": null,
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          "gene_symbol": "MPDZ",
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          "gene_symbol": "MPDZ",
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        {
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          "gene_symbol": "MPDZ",
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        {
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          "gene_symbol": "MPDZ",
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          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPDZ",
          "gene_hgnc_id": 7208,
          "hgvs_c": "c.*366A>G",
          "hgvs_p": null,
          "transcript": "ENST00000538841.5",
          "protein_id": "ENSP00000444717.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 929,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2790,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MPDZ",
      "gene_hgnc_id": 7208,
      "dbsnp": "rs3264",
      "frequency_reference_population": 0.36670363,
      "hom_count_reference_population": 11351,
      "allele_count_reference_population": 60190,
      "gnomad_exomes_af": 0.364629,
      "gnomad_genomes_af": 0.366873,
      "gnomad_exomes_ac": 4509,
      "gnomad_genomes_ac": 55681,
      "gnomad_exomes_homalt": 898,
      "gnomad_genomes_homalt": 10453,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.800000011920929,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.8,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.146,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "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": "ENST00000319217.12",
          "gene_symbol": "MPDZ",
          "hgnc_id": 7208,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*366A>G",
          "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
}