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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: 17-19777680-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19777680&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19777680,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014683.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2953A>G",
"hgvs_p": "p.Thr985Ala",
"transcript": "NM_014683.4",
"protein_id": "NP_055498.3",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2953,
"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": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2953A>G",
"hgvs_p": "p.Thr985Ala",
"transcript": "ENST00000395544.9",
"protein_id": "ENSP00000378914.4",
"transcript_support_level": 1,
"aa_start": 985,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2953,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2953A>G",
"hgvs_p": "p.Thr985Ala",
"transcript": "ENST00000361658.6",
"protein_id": "ENSP00000354877.2",
"transcript_support_level": 1,
"aa_start": 985,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2953,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2968A>G",
"hgvs_p": "p.Thr990Ala",
"transcript": "ENST00000945214.1",
"protein_id": "ENSP00000615273.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2968,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2953A>G",
"hgvs_p": "p.Thr985Ala",
"transcript": "NM_001142610.2",
"protein_id": "NP_001136082.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2953,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2950A>G",
"hgvs_p": "p.Thr984Ala",
"transcript": "ENST00000909803.1",
"protein_id": "ENSP00000579862.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2950,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2911A>G",
"hgvs_p": "p.Thr971Ala",
"transcript": "ENST00000945213.1",
"protein_id": "ENSP00000615272.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2911,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2905A>G",
"hgvs_p": "p.Thr969Ala",
"transcript": "ENST00000909802.1",
"protein_id": "ENSP00000579861.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2905,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.3016A>G",
"hgvs_p": "p.Thr1006Ala",
"transcript": "XM_017025425.3",
"protein_id": "XP_016880914.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3016,
"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": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"hgvs_c": "c.2872A>G",
"hgvs_p": "p.Thr958Ala",
"transcript": "XM_047437147.1",
"protein_id": "XP_047293103.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2872,
"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"
}
],
"gene_symbol": "ULK2",
"gene_hgnc_id": 13480,
"dbsnp": "rs1250395134",
"frequency_reference_population": 0.000004337282,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000273651,
"gnomad_genomes_af": 0.0000197112,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.665327250957489,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.631,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014683.4",
"gene_symbol": "ULK2",
"hgnc_id": 13480,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2953A>G",
"hgvs_p": "p.Thr985Ala"
}
],
"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
}