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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: 14-94288306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94288306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94288306,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000261994.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*",
"transcript": "NM_001100607.3",
"protein_id": "NP_001094077.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 444,
"cds_start": 972,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": "ENST00000261994.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*",
"transcript": "ENST00000261994.9",
"protein_id": "ENSP00000261994.4",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 444,
"cds_start": 972,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": "NM_001100607.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Trp364*",
"transcript": "ENST00000554723.5",
"protein_id": "ENSP00000450896.1",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 484,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*",
"transcript": "ENST00000393096.5",
"protein_id": "ENSP00000376809.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 444,
"cds_start": 972,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*",
"transcript": "ENST00000554173.1",
"protein_id": "ENSP00000450971.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 444,
"cds_start": 972,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*",
"transcript": "NM_016186.3",
"protein_id": "NP_057270.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 444,
"cds_start": 972,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Trp364*",
"transcript": "XM_017021353.2",
"protein_id": "XP_016876842.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 484,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*",
"transcript": "XM_005267733.6",
"protein_id": "XP_005267790.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 444,
"cds_start": 972,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"dbsnp": "rs61754487",
"frequency_reference_population": 0.004315462,
"hom_count_reference_population": 20,
"allele_count_reference_population": 6965,
"gnomad_exomes_af": 0.00434565,
"gnomad_genomes_af": 0.00402569,
"gnomad_exomes_ac": 6352,
"gnomad_genomes_ac": 613,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"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": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.668,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261994.9",
"gene_symbol": "SERPINA10",
"hgnc_id": 15996,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Trp324*"
}
],
"clinvar_disease": " susceptibility to,Venous thrombosis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Venous thrombosis, susceptibility to|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}