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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: 11-64210770-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64210770&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 64210770,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000345728.10",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "NM_031471.6",
          "protein_id": "NP_113659.3",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 428,
          "cdna_end": null,
          "cdna_length": 2499,
          "mane_select": "ENST00000345728.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000345728.10",
          "protein_id": "ENSP00000339950.5",
          "transcript_support_level": 1,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 428,
          "cdna_end": null,
          "cdna_length": 2499,
          "mane_select": "NM_031471.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000279227.10",
          "protein_id": "ENSP00000279227.5",
          "transcript_support_level": 1,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 479,
          "cdna_end": null,
          "cdna_length": 2562,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000698865.1",
          "protein_id": "ENSP00000513992.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": 426,
          "cdna_end": null,
          "cdna_length": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "NM_001382362.1",
          "protein_id": "NP_001369291.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 425,
          "cdna_end": null,
          "cdna_length": 2508,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "NM_178443.3",
          "protein_id": "NP_848537.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 428,
          "cdna_end": null,
          "cdna_length": 2511,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000698860.1",
          "protein_id": "ENSP00000513988.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": 476,
          "cdna_end": null,
          "cdna_length": 2558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "NM_001382361.1",
          "protein_id": "NP_001369290.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 425,
          "cdna_end": null,
          "cdna_length": 2496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "NM_001382448.1",
          "protein_id": "NP_001369377.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 320,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 525,
          "cdna_end": null,
          "cdna_length": 2596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000544997.6",
          "protein_id": "ENSP00000445778.2",
          "transcript_support_level": 3,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 320,
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          "cds_length": 1992,
          "cdna_start": 514,
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          "cdna_length": 2590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "R",
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
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          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000698852.1",
          "protein_id": "ENSP00000513984.1",
          "transcript_support_level": null,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 320,
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          "cdna_start": 1759,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
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        {
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          "intron_rank": null,
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          "gene_symbol": "FERMT3",
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          "transcript": "ENST00000698863.1",
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        {
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          "strand": true,
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          ],
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
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          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000698870.1",
          "protein_id": "ENSP00000513996.1",
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          "mane_select": null,
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        },
        {
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          ],
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        {
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          ],
          "exon_rank": 3,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000698868.1",
          "protein_id": "ENSP00000513994.1",
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          "cdna_start": 407,
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro",
          "transcript": "ENST00000698869.1",
          "protein_id": "ENSP00000513995.1",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "n.414G>C",
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        },
        {
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "FERMT3",
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          "hgvs_c": "n.320G>C",
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "n.457G>C",
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          "cdna_length": 2635,
          "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": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FERMT3",
          "gene_hgnc_id": 23151,
          "hgvs_c": "n.320G>C",
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          "transcript": "ENST00000698847.1",
          "protein_id": "ENSP00000513982.1",
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      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.11415329575538635,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.023,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.6978,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.55,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.539,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000345728.10",
          "gene_symbol": "FERMT3",
          "hgnc_id": 23151,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.320G>C",
          "hgvs_p": "p.Arg107Pro"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}