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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: 17-79115648-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79115648&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 79115648,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000693108.1",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001350451.2",
          "protein_id": "NP_001337380.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 613,
          "cdna_end": null,
          "cdna_length": 3163,
          "mane_select": "ENST00000693108.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "ENST00000693108.1",
          "protein_id": "ENSP00000510395.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 613,
          "cdna_end": null,
          "cdna_length": 3163,
          "mane_select": "NM_001350451.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385804.1",
          "protein_id": "NP_001372733.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 613,
          "cdna_end": null,
          "cdna_length": 2317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385805.1",
          "protein_id": "NP_001372734.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 633,
          "cdna_end": null,
          "cdna_length": 2337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385806.1",
          "protein_id": "NP_001372735.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 372,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1119,
          "cdna_start": 613,
          "cdna_end": null,
          "cdna_length": 2314,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385807.1",
          "protein_id": "NP_001372736.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 858,
          "cdna_end": null,
          "cdna_length": 3408,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385808.1",
          "protein_id": "NP_001372737.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 782,
          "cdna_end": null,
          "cdna_length": 3332,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385809.1",
          "protein_id": "NP_001372738.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 682,
          "cdna_end": null,
          "cdna_length": 3232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385810.1",
          "protein_id": "NP_001372739.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 440,
          "cdna_end": null,
          "cdna_length": 2990,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385811.1",
          "protein_id": "NP_001372740.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 68,
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          "cdna_start": 1284,
          "cdna_end": null,
          "cdna_length": 3834,
          "mane_select": null,
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          "feature": null
        },
        {
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          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385812.1",
          "protein_id": "NP_001372741.1",
          "transcript_support_level": null,
          "aa_start": 23,
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          "cds_start": 68,
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          "cdna_start": 1244,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
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          "hgvs_c": "c.68C>T",
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          "transcript": "NM_001385813.1",
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          "mane_select": null,
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
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        {
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385815.1",
          "protein_id": "NP_001372744.1",
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        {
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          ],
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        {
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          "gene_symbol": "RBFOX3",
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          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385817.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
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          "hgvs_c": "c.68C>T",
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          "transcript": "NM_001385818.1",
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        {
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          ],
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        {
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          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
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          "hgvs_c": "c.68C>T",
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        {
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          ],
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          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
          "transcript": "NM_001385821.1",
          "protein_id": "NP_001372750.1",
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          "cdna_length": 3399,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "A",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2461,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.*50C>T",
          "hgvs_p": null,
          "transcript": "ENST00000580508.1",
          "protein_id": "ENSP00000467872.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 51,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 156,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RBFOX3",
          "gene_hgnc_id": 27097,
          "hgvs_c": "c.*55C>T",
          "hgvs_p": null,
          "transcript": "ENST00000582139.1",
          "protein_id": "ENSP00000464946.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 13,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RBFOX3",
      "gene_hgnc_id": 27097,
      "dbsnp": "rs878854171",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.058070749044418335,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.059,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0777,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.55,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.807,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000693108.1",
          "gene_symbol": "RBFOX3",
          "hgnc_id": 27097,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.68C>T",
          "hgvs_p": "p.Ala23Val"
        }
      ],
      "clinvar_disease": "Idiopathic generalized epilepsy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Idiopathic generalized epilepsy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}