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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: 15-45152320-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45152320&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45152320,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_017434.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_175940.3",
"protein_id": "NP_787954.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389037.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175940.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000389037.7",
"protein_id": "ENSP00000373689.3",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175940.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389037.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000321429.8",
"protein_id": "ENSP00000317997.4",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321429.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.629A>G",
"hgvs_p": null,
"transcript": "ENST00000557893.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000557893.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_017434.5",
"protein_id": "NP_059130.2",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017434.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000885347.1",
"protein_id": "ENSP00000555406.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885347.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000957742.1",
"protein_id": "ENSP00000627801.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957742.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3210A>G",
"hgvs_p": "p.Thr1070Thr",
"transcript": "ENST00000885348.1",
"protein_id": "ENSP00000555407.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1545,
"cds_start": 3210,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885348.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3210A>G",
"hgvs_p": "p.Thr1070Thr",
"transcript": "ENST00000957743.1",
"protein_id": "ENSP00000627802.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1545,
"cds_start": 3210,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957743.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.2166A>G",
"hgvs_p": "p.Thr722Thr",
"transcript": "ENST00000561166.1",
"protein_id": "ENSP00000454065.1",
"transcript_support_level": 2,
"aa_start": 722,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561166.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "XM_047432690.1",
"protein_id": "XP_047288646.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432690.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "XM_047432691.1",
"protein_id": "XP_047288647.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432691.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "XM_047432692.1",
"protein_id": "XP_047288648.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432692.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr",
"transcript": "XM_047432693.1",
"protein_id": "XP_047288649.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3228,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432693.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3111A>G",
"hgvs_p": "p.Thr1037Thr",
"transcript": "XM_011521681.3",
"protein_id": "XP_011519983.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3111,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521681.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.2166A>G",
"hgvs_p": "p.Thr722Thr",
"transcript": "XM_011521682.2",
"protein_id": "XP_011519984.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521682.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.259A>G",
"hgvs_p": null,
"transcript": "ENST00000559716.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000559716.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.*1767A>G",
"hgvs_p": null,
"transcript": "ENST00000561220.6",
"protein_id": "ENSP00000452623.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000561220.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.*1767A>G",
"hgvs_p": null,
"transcript": "ENST00000561220.6",
"protein_id": "ENSP00000452623.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000561220.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.-180A>G",
"hgvs_p": null,
"transcript": "ENST00000559221.1",
"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": "pseudogene",
"feature": "ENST00000559221.1"
}
],
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"dbsnp": "rs1706804",
"frequency_reference_population": 0.6575727,
"hom_count_reference_population": 352550,
"allele_count_reference_population": 1061125,
"gnomad_exomes_af": 0.663207,
"gnomad_genomes_af": 0.603418,
"gnomad_exomes_ac": 969356,
"gnomad_genomes_ac": 91769,
"gnomad_exomes_homalt": 324112,
"gnomad_genomes_homalt": 28438,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.528,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_017434.5",
"gene_symbol": "DUOX1",
"hgnc_id": 3062,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Thr1076Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}