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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: 3-12622336-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12622336&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 12622336,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_002880.4",
      "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": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "NM_002880.4",
          "protein_id": "NP_002871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": "ENST00000251849.9",
          "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": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "ENST00000251849.9",
          "protein_id": "ENSP00000251849.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": "NM_002880.4",
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "NM_001354689.3",
          "protein_id": "NP_001341618.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3251,
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "ENST00000442415.7",
          "protein_id": "ENSP00000401888.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3251,
          "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": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "NM_001354690.3",
          "protein_id": "NP_001341619.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3026,
          "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": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "ENST00000685653.1",
          "protein_id": "ENSP00000509968.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": -4,
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          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4402,
          "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": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "ENST00000691899.1",
          "protein_id": "ENSP00000508763.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2983,
          "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": 17,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "ENST00000690460.1",
          "protein_id": "ENSP00000509106.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": null,
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          "cdna_length": 3141,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "NM_001354693.3",
          "protein_id": "NP_001341622.1",
          "transcript_support_level": null,
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          "aa_length": 615,
          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "consequences": [
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          "intron_rank": 2,
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          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.-27+567G>C",
          "hgvs_p": null,
          "transcript": "ENST00000685437.1",
          "protein_id": "ENSP00000508794.1",
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          "cds_start": -4,
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        {
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          "hgvs_c": "c.-26-3589G>C",
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          "aa_ref": null,
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          "protein_coding": true,
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          "exon_count": 17,
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          "hgvs_c": "c.-27+567G>C",
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          "transcript": "XM_047448650.1",
          "protein_id": "XP_047304606.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cds_length": 1947,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "protein_coding": true,
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          "exon_count": 16,
          "intron_rank": 1,
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          "gene_symbol": "RAF1",
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          "hgvs_c": "c.-27+567G>C",
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          "transcript": "XM_017006966.1",
          "protein_id": "XP_016862455.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 615,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
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          "cdna_length": 2880,
          "mane_select": null,
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        },
        {
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
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          "hgvs_c": "c.-26-3589G>C",
          "hgvs_p": null,
          "transcript": "XM_047448651.1",
          "protein_id": "XP_047304607.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 615,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
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          "cdna_length": 3185,
          "mane_select": null,
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          "biotype": null,
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        }
      ],
      "gene_symbol": "RAF1",
      "gene_hgnc_id": 9829,
      "dbsnp": "rs11923427",
      "frequency_reference_population": 0.19852738,
      "hom_count_reference_population": 3309,
      "allele_count_reference_population": 30198,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.198527,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 30198,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 3309,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8999999761581421,
      "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": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.001,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_002880.4",
          "gene_symbol": "RAF1",
          "hgnc_id": 9829,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.-26-3589G>C",
          "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
}