← Back to variant description
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: 6-31827773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31827773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "HSPA1B",
"hgnc_id": 5233,
"hgvs_c": "c.-178C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_005346.6",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SNHG32",
"hgnc_id": 19078,
"hgvs_c": "n.364+415C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000718216.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_score": -10,
"allele_count_reference_population": 105430,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "6",
"clinvar_classification": "association",
"clinvar_disease": "Chronic obstructive pulmonary disease",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.017000000923871994,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005346.6",
"gene_hgnc_id": 5233,
"gene_symbol": "HSPA1B",
"hgvs_c": "c.-178C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375650.5",
"protein_coding": true,
"protein_id": "NP_005337.2",
"strand": true,
"transcript": "NM_005346.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000375650.5",
"gene_hgnc_id": 5233,
"gene_symbol": "HSPA1B",
"hgvs_c": "c.-178C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005346.6",
"protein_coding": true,
"protein_id": "ENSP00000364801.3",
"strand": true,
"transcript": "ENST00000375650.5",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 827,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718216.1",
"gene_hgnc_id": 19078,
"gene_symbol": "SNHG32",
"hgvs_c": "n.364+415C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718216.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718219.1",
"gene_hgnc_id": 19078,
"gene_symbol": "SNHG32",
"hgvs_c": "n.184+5472C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718219.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718220.1",
"gene_hgnc_id": 19078,
"gene_symbol": "SNHG32",
"hgvs_c": "n.338+415C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 741,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718221.1",
"gene_hgnc_id": 19078,
"gene_symbol": "SNHG32",
"hgvs_c": "n.182+5472C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000718221.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs6457452",
"effect": "5_prime_UTR_variant",
"frequency_reference_population": 0.075915664,
"gene_hgnc_id": 5233,
"gene_symbol": "HSPA1B",
"gnomad_exomes_ac": 89239,
"gnomad_exomes_af": 0.0721643,
"gnomad_exomes_homalt": 4712,
"gnomad_genomes_ac": 16191,
"gnomad_genomes_af": 0.106401,
"gnomad_genomes_homalt": 1208,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5920,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "association",
"phenotype_combined": "Chronic obstructive pulmonary disease",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.047,
"pos": 31827773,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.017,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005346.6"
}
]
}