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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: 5-168292147-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168292147&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168292147,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001161661.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "NM_015238.3",
"protein_id": "NP_056053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": null,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": "ENST00000265293.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015238.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000265293.9",
"protein_id": "ENSP00000265293.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": null,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": "NM_015238.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265293.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000917779.1",
"protein_id": "ENSP00000587838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": null,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000917783.1",
"protein_id": "ENSP00000587842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": null,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "NM_001161661.2",
"protein_id": "NP_001155133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1119,
"cds_start": null,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161661.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "NM_001161662.2",
"protein_id": "NP_001155134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161662.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000864868.1",
"protein_id": "ENSP00000534927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": null,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000917782.1",
"protein_id": "ENSP00000587841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000942220.1",
"protein_id": "ENSP00000612279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000942220.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000942218.1",
"protein_id": "ENSP00000612277.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000942218.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "WWC1",
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"hgvs_c": "c.-6G>A",
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"transcript": "ENST00000917781.1",
"protein_id": "ENSP00000587840.1",
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},
{
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "WWC1",
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},
{
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],
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "WWC1",
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"hgvs_c": "c.-6G>A",
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"transcript": "XM_011534486.2",
"protein_id": "XP_011532788.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "WWC1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "WWC1",
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"hgvs_c": "c.-6G>A",
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"transcript": "XM_011534489.2",
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},
{
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],
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},
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],
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},
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],
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"feature": "XM_017009276.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "WWC1",
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"hgvs_c": "c.-6G>A",
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"transcript": "XM_005265850.2",
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},
{
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"consequences": [
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],
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{
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},
{
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"feature": "XM_005265853.3"
},
{
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{
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],
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{
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],
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"gene_symbol": "WWC1",
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"biotype": "pseudogene",
"feature": "ENST00000523043.5"
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],
"gene_symbol": "WWC1",
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"dbsnp": "rs375703595",
"frequency_reference_population": 0.0003991336,
"hom_count_reference_population": 8,
"allele_count_reference_population": 614,
"gnomad_exomes_af": 0.000224357,
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"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"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": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.112,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001161661.2",
"gene_symbol": "WWC1",
"hgnc_id": 29435,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-6G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}