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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: 2-171553211-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171553211&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171553211,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_024843.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.403-135C>T",
"hgvs_p": null,
"transcript": "NM_024843.4",
"protein_id": "NP_079119.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321348.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024843.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.403-135C>T",
"hgvs_p": null,
"transcript": "ENST00000321348.9",
"protein_id": "ENSP00000319141.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024843.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321348.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.194-135C>T",
"hgvs_p": null,
"transcript": "ENST00000375252.3",
"protein_id": "ENSP00000364401.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375252.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.403-135C>T",
"hgvs_p": null,
"transcript": "ENST00000858692.1",
"protein_id": "ENSP00000528751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.229-135C>T",
"hgvs_p": null,
"transcript": "NM_001256909.2",
"protein_id": "NP_001243838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256909.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.229-135C>T",
"hgvs_p": null,
"transcript": "ENST00000409484.5",
"protein_id": "ENSP00000386739.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.286-135C>T",
"hgvs_p": null,
"transcript": "ENST00000445146.1",
"protein_id": "ENSP00000402242.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"hgvs_c": "c.194-135C>T",
"hgvs_p": null,
"transcript": "NM_001127383.2",
"protein_id": "NP_001120855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127383.2"
}
],
"gene_symbol": "CYBRD1",
"gene_hgnc_id": 20797,
"dbsnp": "rs2542941",
"frequency_reference_population": 0.66177815,
"hom_count_reference_population": 218768,
"allele_count_reference_population": 650925,
"gnomad_exomes_af": 0.654991,
"gnomad_genomes_af": 0.698873,
"gnomad_exomes_ac": 544604,
"gnomad_genomes_ac": 106321,
"gnomad_exomes_homalt": 180728,
"gnomad_genomes_homalt": 38040,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.687,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_024843.4",
"gene_symbol": "CYBRD1",
"hgnc_id": 20797,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.403-135C>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
}