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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: 9-81607703-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81607703&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "9",
      "pos": 81607703,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000376499.8",
      "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1331+2517C>T",
          "hgvs_p": null,
          "transcript": "NM_005077.5",
          "protein_id": "NP_005068.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4135,
          "mane_select": "ENST00000376499.8",
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1331+2517C>T",
          "hgvs_p": null,
          "transcript": "ENST00000376499.8",
          "protein_id": "ENSP00000365682.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4135,
          "mane_select": "NM_005077.5",
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1361+2517C>T",
          "hgvs_p": null,
          "transcript": "NM_001303103.2",
          "protein_id": "NP_001290032.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4165,
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1286+2517C>T",
          "hgvs_p": null,
          "transcript": "NM_001303104.2",
          "protein_id": "NP_001290033.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2268,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4090,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.413+2517C>T",
          "hgvs_p": null,
          "transcript": "ENST00000376484.2",
          "protein_id": "ENSP00000365667.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 146,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 441,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 665,
          "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1463+2517C>T",
          "hgvs_p": null,
          "transcript": "XM_005252151.2",
          "protein_id": "XP_005252208.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 814,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": null,
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          "cdna_length": 4267,
          "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1460+2517C>T",
          "hgvs_p": null,
          "transcript": "XM_005252152.2",
          "protein_id": "XP_005252209.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 813,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2442,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4264,
          "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": 21,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1460+2517C>T",
          "hgvs_p": null,
          "transcript": "XM_006717258.2",
          "protein_id": "XP_006717321.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 813,
          "cds_start": -4,
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          "cds_length": 2442,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 21,
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          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1433+2517C>T",
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          "transcript": "XM_005252153.2",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1430+2517C>T",
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          "gene_symbol": "TLE1",
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          "intron_rank": 13,
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          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1238+2517C>T",
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          ],
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          "exon_count": 18,
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          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1139+2517C>T",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "TLE1",
          "gene_hgnc_id": 11837,
          "hgvs_c": "c.1136+2517C>T",
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          "transcript": "XM_047423816.1",
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      ],
      "gene_symbol": "TLE1",
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      "dbsnp": "rs815847",
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      "gnomad_exomes_af": null,
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      "gnomad_genomes_ac": 93458,
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      "gnomad_genomes_homalt": 29296,
      "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": -0.838,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
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            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000376499.8",
          "gene_symbol": "TLE1",
          "hgnc_id": 11837,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1331+2517C>T",
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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
}