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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: 16-10962501-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10962501&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 10962501,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_015226.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "NM_015226.3",
          "protein_id": "NP_056041.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1053,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3162,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 6812,
          "mane_select": "ENST00000409790.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "ENST00000409790.6",
          "protein_id": "ENSP00000387122.1",
          "transcript_support_level": 5,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1053,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3162,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 6812,
          "mane_select": "NM_015226.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "ENST00000409552.4",
          "protein_id": "ENSP00000386495.3",
          "transcript_support_level": 1,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 3365,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "NM_001410905.1",
          "protein_id": "NP_001397834.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 6806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "ENST00000703130.1",
          "protein_id": "ENSP00000515187.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": 435,
          "cdna_end": null,
          "cdna_length": 6827,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "NM_001243403.2",
          "protein_id": "NP_001230332.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 2939,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "XM_005255211.3",
          "protein_id": "XP_005255268.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1037,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3114,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 6764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "XM_005255213.3",
          "protein_id": "XP_005255270.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1035,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3108,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 6758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "XM_011522434.3",
          "protein_id": "XP_011520736.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 1010,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 3033,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 6683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "CLEC16A",
          "gene_hgnc_id": 29013,
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "XM_047433847.1",
          "protein_id": "XP_047289803.1",
          "transcript_support_level": null,
          "aa_start": 86,
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          "cds_start": 256,
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          "cdna_start": 410,
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          "mane_select": null,
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        {
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          "intron_rank": null,
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          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp",
          "transcript": "XM_005255214.3",
          "protein_id": "XP_005255271.1",
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          "aa_start": 86,
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          "aa_length": 998,
          "cds_start": 256,
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          "cdna_start": 410,
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          "mane_select": null,
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        {
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          "consequences": [
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          "exon_rank": 3,
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          "intron_rank": null,
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          "gene_symbol": "CLEC16A",
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          "hgvs_c": "c.256C>T",
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        {
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          "gene_symbol": "CLEC16A",
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          "hgvs_c": "c.256C>T",
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        {
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          "transcript": "XM_047433853.1",
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        {
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        {
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          "gene_symbol": "CLEC16A",
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      "splice_source_selected": "max_spliceai",
      "revel_score": 0.494,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.9332,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.12,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 3.766,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_015226.3",
          "gene_symbol": "CLEC16A",
          "hgnc_id": 29013,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "Unknown",
          "hgvs_c": "c.256C>T",
          "hgvs_p": "p.Arg86Trp"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}