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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: 9-113386978-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113386978&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 113386978,
      "ref": "C",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001003945.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "NM_000031.6",
          "protein_id": "NP_000022.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000409155.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000031.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000409155.8",
          "protein_id": "ENSP00000386284.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000031.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409155.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "NM_001003945.3",
          "protein_id": "NP_001003945.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001003945.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907374.1",
          "protein_id": "ENSP00000577433.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 351,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1056,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907374.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907359.1",
          "protein_id": "ENSP00000577418.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907359.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907376.1",
          "protein_id": "ENSP00000577435.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907376.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000954349.1",
          "protein_id": "ENSP00000624408.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954349.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907358.1",
          "protein_id": "ENSP00000577417.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907358.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907360.1",
          "protein_id": "ENSP00000577419.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": null,
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          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907360.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907361.1",
          "protein_id": "ENSP00000577420.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907362.1",
          "protein_id": "ENSP00000577421.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 330,
          "cds_start": null,
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          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "ALAD",
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          "cds_start": null,
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        {
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          "gene_symbol": "ALAD",
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          "hgvs_c": "c.*1322G>A",
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        {
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          "consequences": [
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907366.1",
          "protein_id": "ENSP00000577425.1",
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          "cds_start": null,
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        {
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        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ALAD",
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          "hgvs_c": "c.*1322G>A",
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          "transcript": "ENST00000907370.1",
          "protein_id": "ENSP00000577429.1",
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        {
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          "protein_coding": true,
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          "gene_symbol": "ALAD",
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        {
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          "gene_symbol": "ALAD",
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        {
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          "intron_rank": null,
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        },
        {
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          ],
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALAD",
          "gene_hgnc_id": 395,
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null,
          "transcript": "ENST00000907375.1",
          "protein_id": "ENSP00000577434.1",
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          "cdna_start": null,
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          "cdna_length": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907375.1"
        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000482847.5"
        }
      ],
      "gene_symbol": "ALAD",
      "gene_hgnc_id": 395,
      "dbsnp": "rs11789221",
      "frequency_reference_population": 0.0056229904,
      "hom_count_reference_population": 7,
      "allele_count_reference_population": 857,
      "gnomad_exomes_af": 0.00909091,
      "gnomad_genomes_af": 0.00562049,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": 856,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 7,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8899999856948853,
      "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": -0.89,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.173,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001003945.3",
          "gene_symbol": "ALAD",
          "hgnc_id": 395,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*1322G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Porphobilinogen synthase deficiency,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:1",
      "phenotype_combined": "Porphobilinogen synthase deficiency|not provided",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}