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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: 15-45153958-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45153958&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45153958,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000389037.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "NM_175940.3",
"protein_id": "NP_787954.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 3686,
"cdna_end": null,
"cdna_length": 5483,
"mane_select": "ENST00000389037.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "ENST00000389037.7",
"protein_id": "ENSP00000373689.3",
"transcript_support_level": 1,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 3686,
"cdna_end": null,
"cdna_length": 5483,
"mane_select": "NM_175940.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "ENST00000321429.8",
"protein_id": "ENSP00000317997.4",
"transcript_support_level": 1,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "NM_017434.5",
"protein_id": "NP_059130.2",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 3878,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.2470C>A",
"hgvs_p": "p.Leu824Ile",
"transcript": "ENST00000561166.1",
"protein_id": "ENSP00000454065.1",
"transcript_support_level": 2,
"aa_start": 824,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 2743,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "XM_047432690.1",
"protein_id": "XP_047288646.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5505,
"cdna_end": null,
"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "XM_047432691.1",
"protein_id": "XP_047288647.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "XM_047432692.1",
"protein_id": "XP_047288648.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5093,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile",
"transcript": "XM_047432693.1",
"protein_id": "XP_047288649.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1551,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5108,
"cdna_end": null,
"cdna_length": 6905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.3415C>A",
"hgvs_p": "p.Leu1139Ile",
"transcript": "XM_011521681.3",
"protein_id": "XP_011519983.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3415,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "c.2470C>A",
"hgvs_p": "p.Leu824Ile",
"transcript": "XM_011521682.2",
"protein_id": "XP_011519984.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.171C>A",
"hgvs_p": null,
"transcript": "ENST00000558744.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.125C>A",
"hgvs_p": null,
"transcript": "ENST00000559221.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.563C>A",
"hgvs_p": null,
"transcript": "ENST00000559716.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.*2071C>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"hgvs_c": "n.*2071C>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259539",
"gene_hgnc_id": null,
"hgvs_c": "n.42-741G>T",
"hgvs_p": null,
"transcript": "ENST00000558039.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DUOX1",
"gene_hgnc_id": 3062,
"dbsnp": "rs2458236",
"frequency_reference_population": 0.000017368326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.000017801,
"gnomad_genomes_af": 0.0000131982,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.138943612575531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.584,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000389037.7",
"gene_symbol": "DUOX1",
"hgnc_id": 3062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3532C>A",
"hgvs_p": "p.Leu1178Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000558039.1",
"gene_symbol": "ENSG00000259539",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.42-741G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}