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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: 1-155443139-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155443139&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 155443139,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000392403.8",
      "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": 28,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "NM_018489.3",
          "protein_id": "NP_060959.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2964,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12037,
          "mane_select": "ENST00000392403.8",
          "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": 28,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "ENST00000392403.8",
          "protein_id": "ENSP00000376204.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2964,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12037,
          "mane_select": "NM_018489.3",
          "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": 28,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "ENST00000368346.7",
          "protein_id": "ENSP00000357330.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2969,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8910,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11942,
          "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": 28,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "NM_001366177.2",
          "protein_id": "NP_001353106.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2969,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8910,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12052,
          "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": 28,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "ENST00000679133.1",
          "protein_id": "ENSP00000504026.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2969,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8910,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11431,
          "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": 28,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "ENST00000677213.1",
          "protein_id": "ENSP00000503315.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 8895,
          "cdna_start": null,
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          "cdna_length": 11457,
          "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": 29,
          "intron_rank": 5,
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          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "ENST00000678117.1",
          "protein_id": "ENSP00000504629.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2964,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11549,
          "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": 29,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ASH1L",
          "gene_hgnc_id": 19088,
          "hgvs_c": "c.5087-4071T>G",
          "hgvs_p": null,
          "transcript": "ENST00000679097.1",
          "protein_id": "ENSP00000503265.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 8895,
          "cdna_start": null,
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          "cdna_length": 11530,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 27,
          "intron_rank": 3,
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          "gene_symbol": "ASH1L",
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          "hgvs_c": "c.5087-4071T>G",
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          "transcript": "ENST00000677825.1",
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        {
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          "gene_symbol": "ASH1L",
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          "hgvs_c": "c.5087-4071T>G",
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      ],
      "gene_symbol": "ASH1L",
      "gene_hgnc_id": 19088,
      "dbsnp": "rs11264372",
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      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9100000262260437,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.91,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.714,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000392403.8",
          "gene_symbol": "ASH1L",
          "hgnc_id": 19088,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.5087-4071T>G",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}