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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: 17-19781034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19781034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19781034,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014683.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "NM_014683.4",
"protein_id": "NP_055498.3",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395544.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014683.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "ENST00000395544.9",
"protein_id": "ENSP00000378914.4",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014683.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395544.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "ENST00000361658.6",
"protein_id": "ENSP00000354877.2",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361658.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "ENST00000945214.1",
"protein_id": "ENSP00000615273.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945214.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "NM_001142610.2",
"protein_id": "NP_001136082.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142610.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Ala903Thr",
"transcript": "ENST00000909803.1",
"protein_id": "ENSP00000579862.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909803.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Ala890Thr",
"transcript": "ENST00000945213.1",
"protein_id": "ENSP00000615272.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945213.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2662G>A",
"hgvs_p": "p.Ala888Thr",
"transcript": "ENST00000909802.1",
"protein_id": "ENSP00000579861.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909802.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2773G>A",
"hgvs_p": "p.Ala925Thr",
"transcript": "XM_017025425.3",
"protein_id": "XP_016880914.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025425.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2629G>A",
"hgvs_p": "p.Ala877Thr",
"transcript": "XM_047437147.1",
"protein_id": "XP_047293103.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2629,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437147.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2594G>A",
"hgvs_p": "p.Ser865Asn",
"transcript": "XM_047437148.1",
"protein_id": "XP_047293104.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 889,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "n.*52G>A",
"hgvs_p": null,
"transcript": "ENST00000571454.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000571454.2"
}
],
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"dbsnp": "rs1171995950",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2444170117378235,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.0755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.833,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014683.4",
"gene_symbol": "ULK2",
"hgnc_id": 13480,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2710G>A",
"hgvs_p": "p.Ala904Thr"
}
],
"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
}