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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: 17-28529157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28529157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28529157,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000579795.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "NM_001369369.1",
"protein_id": "NP_001356298.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": "ENST00000579795.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "ENST00000579795.6",
"protein_id": "ENSP00000464645.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": "NM_001369369.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "ENST00000226247.2",
"protein_id": "ENSP00000226247.2",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 792,
"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.*1196-73048G>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": -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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "NM_003593.3",
"protein_id": "NP_003584.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "ENST00000577936.2",
"protein_id": "ENSP00000462159.2",
"transcript_support_level": 4,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "XM_011525358.2",
"protein_id": "XP_011523660.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 649,
"cds_start": 766,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "XM_011525359.2",
"protein_id": "XP_011523661.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 649,
"cds_start": 766,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*",
"transcript": "XM_011525362.2",
"protein_id": "XP_011523664.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254*",
"transcript": "XM_047436939.1",
"protein_id": "XP_047292895.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 647,
"cds_start": 760,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "XM_017025229.2",
"protein_id": "XP_016880718.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 567,
"cds_start": 766,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "XM_017025230.2",
"protein_id": "XP_016880719.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 485,
"cds_start": 766,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.205C>T",
"hgvs_p": "p.Arg69*",
"transcript": "XM_011525367.2",
"protein_id": "XP_011523669.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 462,
"cds_start": 205,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Arg43*",
"transcript": "XM_011525368.3",
"protein_id": "XP_011523670.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 436,
"cds_start": 127,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Arg43*",
"transcript": "XM_011525369.2",
"protein_id": "XP_011523671.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 436,
"cds_start": 127,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Arg43*",
"transcript": "XM_011525370.2",
"protein_id": "XP_011523672.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 436,
"cds_start": 127,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "XM_017025231.2",
"protein_id": "XP_016880720.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 384,
"cds_start": 766,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXN1",
"gene_hgnc_id": 12765,
"dbsnp": "rs104894562",
"frequency_reference_population": 0.0000018586762,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"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": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.615,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP4,PM2_Supporting,PM3,PP1_Strong,PVS1",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PP4",
"PM2_Supporting",
"PM3",
"PP1_Strong",
"PVS1"
],
"verdict": "Pathogenic",
"transcript": "ENST00000579795.6",
"gene_symbol": "FOXN1",
"hgnc_id": 12765,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000481916.6",
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1196-73048G>A",
"hgvs_p": null
}
],
"clinvar_disease": " and nail dystrophy, autosomal dominant, congenital alopecia, infantile, with or without nail dystrophy,Severe combined immunodeficiency disease,T-cell immunodeficiency,T-cell lymphopenia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant|Severe combined immunodeficiency disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}