← Back to variant description
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: 3-41398197-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=41398197&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 41398197,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017886.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.3560A>G",
"hgvs_p": "p.Tyr1187Cys",
"transcript": "NM_017886.4",
"protein_id": "NP_060356.2",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301831.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017886.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.3560A>G",
"hgvs_p": "p.Tyr1187Cys",
"transcript": "ENST00000301831.9",
"protein_id": "ENSP00000301831.4",
"transcript_support_level": 2,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017886.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301831.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.3557A>G",
"hgvs_p": "p.Tyr1186Cys",
"transcript": "ENST00000951851.1",
"protein_id": "ENSP00000621910.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3557,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951851.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.3476A>G",
"hgvs_p": "p.Tyr1159Cys",
"transcript": "ENST00000889811.1",
"protein_id": "ENSP00000559870.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3476,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889811.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.3560A>G",
"hgvs_p": "p.Tyr1187Cys",
"transcript": "NM_001322500.2",
"protein_id": "NP_001309429.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322500.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Tyr885Cys",
"transcript": "NM_001322501.2",
"protein_id": "NP_001309430.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 973,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322501.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.1733A>G",
"hgvs_p": "p.Tyr578Cys",
"transcript": "XM_047448417.1",
"protein_id": "XP_047304373.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 666,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448417.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "c.1691A>G",
"hgvs_p": "p.Tyr564Cys",
"transcript": "XM_024453612.2",
"protein_id": "XP_024309380.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 652,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453612.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"hgvs_c": "n.3531A>G",
"hgvs_p": null,
"transcript": "NR_136342.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136342.2"
}
],
"gene_symbol": "ULK4",
"gene_hgnc_id": 15784,
"dbsnp": "rs367582738",
"frequency_reference_population": 0.0000013686556,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136866,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8179136514663696,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.413,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3426,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.809,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017886.4",
"gene_symbol": "ULK4",
"hgnc_id": 15784,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3560A>G",
"hgvs_p": "p.Tyr1187Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}