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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: 11-35189251-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35189251&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 35189251,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_000610.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "NM_000610.4",
          "protein_id": "NP_000601.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5431,
          "mane_select": "ENST00000428726.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000428726.8",
          "protein_id": "ENSP00000398632.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5431,
          "mane_select": "NM_000610.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000415148.6",
          "protein_id": "ENSP00000389830.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2369,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000433892.6",
          "protein_id": "ENSP00000392331.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000434472.6",
          "protein_id": "ENSP00000404447.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000263398.11",
          "protein_id": "ENSP00000263398.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4288,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000352818.8",
          "protein_id": "ENSP00000309732.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.434-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000442151.6",
          "protein_id": "ENSP00000398099.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.233+12511G>T",
          "hgvs_p": null,
          "transcript": "ENST00000278386.10",
          "protein_id": "ENSP00000278386.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 420,
          "cdna_start": null,
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          "cdna_length": 484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "n.*60-584G>T",
          "hgvs_p": null,
          "transcript": "ENST00000425428.6",
          "protein_id": "ENSP00000395953.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
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          "intron_rank": 4,
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
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          "gene_symbol": "CD44",
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        {
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          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.437-584G>T",
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          "aa_length": 446,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CD44",
      "gene_hgnc_id": 1681,
      "dbsnp": "rs996076",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "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": -0.8399999737739563,
      "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": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.304,
      "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": -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": "NM_000610.4",
          "gene_symbol": "CD44",
          "hgnc_id": 1681,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "BG",
          "hgvs_c": "c.437-584G>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
}