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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: 17-28524925-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28524925&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28524925,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003593.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "NM_001369369.1",
"protein_id": "NP_001356298.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 648,
"cds_start": 546,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579795.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369369.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "ENST00000579795.6",
"protein_id": "ENSP00000464645.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 648,
"cds_start": 546,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369369.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579795.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "ENST00000226247.2",
"protein_id": "ENSP00000226247.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 648,
"cds_start": 546,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226247.2"
},
{
"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.*1196-68816G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481916.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "NM_003593.3",
"protein_id": "NP_003584.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 648,
"cds_start": 546,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003593.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "ENST00000577936.2",
"protein_id": "ENSP00000462159.2",
"transcript_support_level": 4,
"aa_start": 182,
"aa_end": null,
"aa_length": 648,
"cds_start": 546,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577936.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "XM_011525358.2",
"protein_id": "XP_011523660.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 649,
"cds_start": 546,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525358.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "XM_011525359.2",
"protein_id": "XP_011523661.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 649,
"cds_start": 546,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525359.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.543C>T",
"hgvs_p": "p.Asn181Asn",
"transcript": "XM_011525362.2",
"protein_id": "XP_011523664.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 648,
"cds_start": 543,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525362.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.543C>T",
"hgvs_p": "p.Asn181Asn",
"transcript": "XM_047436939.1",
"protein_id": "XP_047292895.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 647,
"cds_start": 543,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436939.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "XM_017025229.2",
"protein_id": "XP_016880718.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 567,
"cds_start": 546,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025229.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "XM_017025230.2",
"protein_id": "XP_016880719.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 485,
"cds_start": 546,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025230.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.546C>T",
"hgvs_p": "p.Asn182Asn",
"transcript": "XM_017025231.2",
"protein_id": "XP_016880720.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 384,
"cds_start": 546,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025231.2"
},
{
"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.-51-2323C>T",
"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": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525368.3"
}
],
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"dbsnp": "rs62640040",
"frequency_reference_population": 0.001833612,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2957,
"gnomad_exomes_af": 0.00189685,
"gnomad_genomes_af": 0.00122747,
"gnomad_exomes_ac": 2770,
"gnomad_genomes_ac": 187,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.24,
"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_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003593.3",
"gene_symbol": "FOXN1",
"hgnc_id": 12765,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Asn182Asn"
},
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000481916.6",
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1196-68816G>A",
"hgvs_p": null
}
],
"clinvar_disease": " and nail dystrophy, congenital alopecia,T-cell immunodeficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"phenotype_combined": "not specified|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}