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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: 11-11964514-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=11964514&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 11964514,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001330220.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1003A>G",
          "hgvs_p": "p.Arg335Gly",
          "transcript": "NM_001018057.2",
          "protein_id": "NP_001018067.1",
          "transcript_support_level": null,
          "aa_start": 335,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 1003,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000683431.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001018057.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1003A>G",
          "hgvs_p": "p.Arg335Gly",
          "transcript": "ENST00000683431.1",
          "protein_id": "ENSP00000506835.1",
          "transcript_support_level": null,
          "aa_start": 335,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 1003,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001018057.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683431.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1003A>G",
          "hgvs_p": "p.Arg335Gly",
          "transcript": "ENST00000326932.8",
          "protein_id": "ENSP00000314910.4",
          "transcript_support_level": 1,
          "aa_start": 335,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 1003,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000326932.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1003A>G",
          "hgvs_p": "p.Arg335Gly",
          "transcript": "ENST00000396505.7",
          "protein_id": "ENSP00000379762.2",
          "transcript_support_level": 1,
          "aa_start": 335,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 1003,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396505.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1252A>G",
          "hgvs_p": "p.Arg418Gly",
          "transcript": "ENST00000903527.1",
          "protein_id": "ENSP00000573586.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 1252,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903527.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1252A>G",
          "hgvs_p": "p.Arg418Gly",
          "transcript": "ENST00000958801.1",
          "protein_id": "ENSP00000628860.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 1252,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958801.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1174A>G",
          "hgvs_p": "p.Arg392Gly",
          "transcript": "ENST00000958821.1",
          "protein_id": "ENSP00000628880.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": 1174,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958821.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1171A>G",
          "hgvs_p": "p.Arg391Gly",
          "transcript": "ENST00000903519.1",
          "protein_id": "ENSP00000573578.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1171,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903519.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1171A>G",
          "hgvs_p": "p.Arg391Gly",
          "transcript": "ENST00000958809.1",
          "protein_id": "ENSP00000628868.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1171,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958809.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1171A>G",
          "hgvs_p": "p.Arg391Gly",
          "transcript": "ENST00000958813.1",
          "protein_id": "ENSP00000628872.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1171,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1171A>G",
          "hgvs_p": "p.Arg391Gly",
          "transcript": "ENST00000958819.1",
          "protein_id": "ENSP00000628878.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1171,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
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          "intron_rank": null,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1084A>G",
          "hgvs_p": "p.Arg362Gly",
          "transcript": "ENST00000958798.1",
          "protein_id": "ENSP00000628857.1",
          "transcript_support_level": null,
          "aa_start": 362,
          "aa_end": null,
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          "cds_start": 1084,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
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          "intron_rank": null,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1084A>G",
          "hgvs_p": "p.Arg362Gly",
          "transcript": "ENST00000958803.1",
          "protein_id": "ENSP00000628862.1",
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          "cds_start": 1084,
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        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 8,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1084A>G",
          "hgvs_p": "p.Arg362Gly",
          "transcript": "ENST00000958815.1",
          "protein_id": "ENSP00000628874.1",
          "transcript_support_level": null,
          "aa_start": 362,
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          "cds_start": 1084,
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        {
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1084A>G",
          "hgvs_p": "p.Arg362Gly",
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          "biotype": "protein_coding",
          "feature": "ENST00000958818.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1069A>G",
          "hgvs_p": "p.Arg357Gly",
          "transcript": "ENST00000958802.1",
          "protein_id": "ENSP00000628861.1",
          "transcript_support_level": null,
          "aa_start": 357,
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          "cds_start": 1069,
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        {
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          "intron_rank": null,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1069A>G",
          "hgvs_p": "p.Arg357Gly",
          "transcript": "ENST00000958817.1",
          "protein_id": "ENSP00000628876.1",
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          "gene_symbol": "DKK3",
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          "hgvs_c": "c.1066A>G",
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          "transcript": "ENST00000958804.1",
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          "cds_start": 1066,
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        {
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          "gene_symbol": "DKK3",
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          "hgvs_c": "c.1045A>G",
          "hgvs_p": "p.Arg349Gly",
          "transcript": "NM_001330220.3",
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          "biotype": "protein_coding",
          "feature": "NM_001330220.3"
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1045A>G",
          "hgvs_p": "p.Arg349Gly",
          "transcript": "ENST00000525493.5",
          "protein_id": "ENSP00000433112.1",
          "transcript_support_level": 2,
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        {
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      "computational_score_selected": 9.171824331133394e-7,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
      "alphamissense_score": 0.0441,
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      "bayesdelnoaf_prediction": "Benign",
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
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          "criteria": [
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          ],
          "verdict": "Benign",
          "transcript": "NM_001330220.3",
          "gene_symbol": "DKK3",
          "hgnc_id": 2893,
          "effects": [
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          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1045A>G",
          "hgvs_p": "p.Arg349Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.