← 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: 4-47406692-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47406692&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47406692,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000295454.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB1",
"gene_hgnc_id": 4081,
"hgvs_c": "c.846A>C",
"hgvs_p": "p.Thr282Thr",
"transcript": "NM_000812.4",
"protein_id": "NP_000803.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 474,
"cds_start": 846,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": "ENST00000295454.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB1",
"gene_hgnc_id": 4081,
"hgvs_c": "c.846A>C",
"hgvs_p": "p.Thr282Thr",
"transcript": "ENST00000295454.8",
"protein_id": "ENSP00000295454.3",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 474,
"cds_start": 846,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": "NM_000812.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB1",
"gene_hgnc_id": 4081,
"hgvs_c": "c.747A>C",
"hgvs_p": "p.Thr249Thr",
"transcript": "XM_024453976.2",
"protein_id": "XP_024309744.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 441,
"cds_start": 747,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB1",
"gene_hgnc_id": 4081,
"hgvs_c": "c.747A>C",
"hgvs_p": "p.Thr249Thr",
"transcript": "XM_024453977.2",
"protein_id": "XP_024309745.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 441,
"cds_start": 747,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB1",
"gene_hgnc_id": 4081,
"hgvs_c": "c.195A>C",
"hgvs_p": "p.Thr65Thr",
"transcript": "XM_017007985.2",
"protein_id": "XP_016863474.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 257,
"cds_start": 195,
"cds_end": null,
"cds_length": 774,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRB1",
"gene_hgnc_id": 4081,
"dbsnp": "rs6289",
"frequency_reference_population": 0.0000065763516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657635,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.028,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000295454.8",
"gene_symbol": "GABRB1",
"hgnc_id": 4081,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.846A>C",
"hgvs_p": "p.Thr282Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}