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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: 4-142054920-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=142054920&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 142054920,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000262992.9",
      "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": 26,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-26006T>C",
          "hgvs_p": null,
          "transcript": "NM_001101669.3",
          "protein_id": "NP_001095139.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 924,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2775,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8743,
          "mane_select": "ENST00000262992.9",
          "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": 26,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-26006T>C",
          "hgvs_p": null,
          "transcript": "ENST00000262992.9",
          "protein_id": "ENSP00000262992.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 924,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2775,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8743,
          "mane_select": "NM_001101669.3",
          "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": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-26006T>C",
          "hgvs_p": null,
          "transcript": "ENST00000508116.5",
          "protein_id": "ENSP00000423954.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 924,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2775,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3165,
          "mane_select": null,
          "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": 27,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-26006T>C",
          "hgvs_p": null,
          "transcript": "ENST00000513000.5",
          "protein_id": "ENSP00000425487.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 924,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2775,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8831,
          "mane_select": null,
          "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": 26,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-24618T>C",
          "hgvs_p": null,
          "transcript": "NM_001331040.1",
          "protein_id": "NP_001317969.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 938,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2817,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4569,
          "mane_select": null,
          "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": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-24618T>C",
          "hgvs_p": null,
          "transcript": "NM_001385335.1",
          "protein_id": "NP_001372264.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 938,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2817,
          "cdna_start": null,
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          "cdna_length": 4272,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 26,
          "intron_rank": 25,
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          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2643-24618T>C",
          "hgvs_p": null,
          "transcript": "ENST00000509777.5",
          "protein_id": "ENSP00000422793.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 938,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2817,
          "cdna_start": null,
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          "cdna_length": 4334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2670-26006T>C",
          "hgvs_p": null,
          "transcript": "NM_001385339.1",
          "protein_id": "NP_001372268.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 933,
          "cds_start": -4,
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          "cds_length": 2802,
          "cdna_start": null,
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          "cdna_length": 8913,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 25,
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          "gene_symbol": "INPP4B",
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          "hgvs_c": "c.2670-26006T>C",
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          "transcript": "NM_001385343.1",
          "protein_id": "NP_001372272.1",
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          "mane_select": null,
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        {
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          "gene_symbol": "INPP4B",
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          "protein_id": "NP_001372263.1",
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2283-24618T>C",
          "hgvs_p": null,
          "transcript": "XM_047416363.1",
          "protein_id": "XP_047272319.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3726,
          "mane_select": null,
          "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": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "INPP4B",
          "gene_hgnc_id": 6075,
          "hgvs_c": "c.2115-24618T>C",
          "hgvs_p": null,
          "transcript": "XM_017008798.2",
          "protein_id": "XP_016864287.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 762,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2289,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3661,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "INPP4B",
      "gene_hgnc_id": 6075,
      "dbsnp": "rs2667100",
      "frequency_reference_population": 0.8139911,
      "hom_count_reference_population": 52469,
      "allele_count_reference_population": 123642,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.813991,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 123642,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 52469,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8500000238418579,
      "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": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.903,
      "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": "ENST00000262992.9",
          "gene_symbol": "INPP4B",
          "hgnc_id": 6075,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2643-26006T>C",
          "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
}