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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: 17-28524573-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28524573&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28524573,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000579795.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "NM_001369369.1",
"protein_id": "NP_001356298.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 648,
"cds_start": 194,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": "ENST00000579795.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "ENST00000579795.6",
"protein_id": "ENSP00000464645.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 648,
"cds_start": 194,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": "NM_001369369.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "ENST00000226247.2",
"protein_id": "ENSP00000226247.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 648,
"cds_start": 194,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RSKR",
"gene_hgnc_id": 26314,
"hgvs_c": "n.*1196-68464G>T",
"hgvs_p": null,
"transcript": "ENST00000481916.6",
"protein_id": "ENSP00000436369.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "NM_003593.3",
"protein_id": "NP_003584.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 648,
"cds_start": 194,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "ENST00000577936.2",
"protein_id": "ENSP00000462159.2",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 648,
"cds_start": 194,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "XM_011525358.2",
"protein_id": "XP_011523660.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 649,
"cds_start": 194,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "XM_011525359.2",
"protein_id": "XP_011523661.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 649,
"cds_start": 194,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64Gln",
"transcript": "XM_011525362.2",
"protein_id": "XP_011523664.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 648,
"cds_start": 191,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64Gln",
"transcript": "XM_047436939.1",
"protein_id": "XP_047292895.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 647,
"cds_start": 191,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "XM_017025229.2",
"protein_id": "XP_016880718.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 567,
"cds_start": 194,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "XM_017025230.2",
"protein_id": "XP_016880719.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 485,
"cds_start": 194,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln",
"transcript": "XM_017025231.2",
"protein_id": "XP_016880720.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 384,
"cds_start": 194,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.-51-2675C>A",
"hgvs_p": null,
"transcript": "XM_011525368.3",
"protein_id": "XP_011523670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"dbsnp": "rs777608417",
"frequency_reference_population": 0.0000074369163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752722,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26024624705314636,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.352,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.454,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000579795.6",
"gene_symbol": "FOXN1",
"hgnc_id": 12765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.194C>A",
"hgvs_p": "p.Pro65Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000481916.6",
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1196-68464G>T",
"hgvs_p": null
}
],
"clinvar_disease": " and nail dystrophy, congenital alopecia,T-cell immunodeficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}