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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: 6-53514607-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53514607&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 53514607,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000650454.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.561-110T>G",
"hgvs_p": null,
"transcript": "NM_001498.4",
"protein_id": "NP_001489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": "ENST00000650454.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.561-110T>G",
"hgvs_p": null,
"transcript": "ENST00000650454.1",
"protein_id": "ENSP00000497574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": "NM_001498.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.402-110T>G",
"hgvs_p": null,
"transcript": "ENST00000616923.5",
"protein_id": "ENSP00000482756.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.561-110T>G",
"hgvs_p": null,
"transcript": "ENST00000514004.5",
"protein_id": "ENSP00000421908.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.567-110T>G",
"hgvs_p": null,
"transcript": "ENST00000643939.1",
"protein_id": "ENSP00000495686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.447-110T>G",
"hgvs_p": null,
"transcript": "NM_001197115.2",
"protein_id": "NP_001184044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.447-110T>G",
"hgvs_p": null,
"transcript": "ENST00000513939.6",
"protein_id": "ENSP00000424211.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1800,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "n.151-75T>G",
"hgvs_p": null,
"transcript": "ENST00000504525.1",
"protein_id": "ENSP00000421228.1",
"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": 1011,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "n.658-110T>G",
"hgvs_p": null,
"transcript": "ENST00000505294.5",
"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": 847,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "n.492-110T>G",
"hgvs_p": null,
"transcript": "ENST00000514933.2",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCLC-AS1",
"gene_hgnc_id": 56649,
"hgvs_c": "n.161-5635A>C",
"hgvs_p": null,
"transcript": "ENST00000789581.1",
"protein_id": null,
"transcript_support_level": null,
"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": 389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"dbsnp": "rs3736729",
"frequency_reference_population": 0.47111565,
"hom_count_reference_population": 92494,
"allele_count_reference_population": 384942,
"gnomad_exomes_af": 0.476943,
"gnomad_genomes_af": 0.445631,
"gnomad_exomes_ac": 317174,
"gnomad_genomes_ac": 67768,
"gnomad_exomes_homalt": 76994,
"gnomad_genomes_homalt": 15500,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.102,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000650454.1",
"gene_symbol": "GCLC",
"hgnc_id": 4311,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.561-110T>G",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000789581.1",
"gene_symbol": "GCLC-AS1",
"hgnc_id": 56649,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.161-5635A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}