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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: 17-64505387-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64505387&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 64505387,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000225792.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.45-545C>T",
          "hgvs_p": null,
          "transcript": "NM_004396.5",
          "protein_id": "NP_004387.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3684,
          "mane_select": "ENST00000225792.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.45-545C>T",
          "hgvs_p": null,
          "transcript": "ENST00000225792.10",
          "protein_id": "ENSP00000225792.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3684,
          "mane_select": "NM_004396.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.44+359C>T",
          "hgvs_p": null,
          "transcript": "ENST00000578804.5",
          "protein_id": "ENSP00000462885.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2021,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.-440C>T",
          "hgvs_p": null,
          "transcript": "ENST00000578190.5",
          "protein_id": "ENSP00000463541.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 45,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.-373C>T",
          "hgvs_p": null,
          "transcript": "ENST00000579091.5",
          "protein_id": "ENSP00000464587.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 30,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 94,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 531,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "n.-618C>T",
          "hgvs_p": null,
          "transcript": "ENST00000676581.1",
          "protein_id": "ENSP00000504407.1",
          "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": 3937,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "n.-816C>T",
          "hgvs_p": null,
          "transcript": "ENST00000678757.1",
          "protein_id": "ENSP00000504731.1",
          "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": 4144,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "n.-618C>T",
          "hgvs_p": null,
          "transcript": "ENST00000676581.1",
          "protein_id": "ENSP00000504407.1",
          "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": 3937,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "n.-816C>T",
          "hgvs_p": null,
          "transcript": "ENST00000678757.1",
          "protein_id": "ENSP00000504731.1",
          "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,
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          "cdna_length": 4144,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.-440C>T",
          "hgvs_p": null,
          "transcript": "ENST00000578190.5",
          "protein_id": "ENSP00000463541.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 45,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.-373C>T",
          "hgvs_p": null,
          "transcript": "ENST00000579091.5",
          "protein_id": "ENSP00000464587.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 30,
          "cds_start": -4,
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          "cds_length": 94,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 531,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "n.-618C>T",
          "hgvs_p": null,
          "transcript": "ENST00000676581.1",
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        {
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          "canonical": false,
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          ],
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "n.-816C>T",
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        {
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.45-545C>T",
          "hgvs_p": null,
          "transcript": "NM_001320595.2",
          "protein_id": "NP_001307524.1",
          "transcript_support_level": null,
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          "aa_length": 614,
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          "mane_select": null,
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          "feature": null
        },
        {
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          ],
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          "gene_symbol": "DDX5",
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          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.44+359C>T",
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          "transcript": "NM_001320597.2",
          "protein_id": "NP_001307526.1",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.45-545C>T",
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          "transcript": "ENST00000450599.7",
          "protein_id": "ENSP00000403085.3",
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        },
        {
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          ],
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          "intron_rank": 2,
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          "gene_symbol": "DDX5",
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          "hgvs_c": "c.45-545C>T",
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          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.45-545C>T",
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        {
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          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.45-545C>T",
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          "transcript": "ENST00000676785.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DDX5",
          "gene_hgnc_id": 2746,
          "hgvs_c": "c.158+52C>T",
          "hgvs_p": null,
          "transcript": "ENST00000583239.6",
          "protein_id": "ENSP00000463101.2",
          "transcript_support_level": 4,
          "aa_start": null,
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          "cdna_length": 3795,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "DDX5",
      "gene_hgnc_id": 2746,
      "dbsnp": "rs16947824",
      "frequency_reference_population": 0.04274087,
      "hom_count_reference_population": 667,
      "allele_count_reference_population": 19997,
      "gnomad_exomes_af": 0.039385,
      "gnomad_genomes_af": 0.0496966,
      "gnomad_exomes_ac": 12430,
      "gnomad_genomes_ac": 7567,
      "gnomad_exomes_homalt": 369,
      "gnomad_genomes_homalt": 298,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7799999713897705,
      "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": -0.78,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.335,
      "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": "ENST00000225792.10",
          "gene_symbol": "DDX5",
          "hgnc_id": 2746,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.45-545C>T",
          "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
}