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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: 8-27287744-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27287744&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27287744,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_171982.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.1288G>T",
"hgvs_p": "p.Val430Leu",
"transcript": "NM_171982.5",
"protein_id": "NP_741983.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 493,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305364.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171982.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.1288G>T",
"hgvs_p": "p.Val430Leu",
"transcript": "ENST00000305364.9",
"protein_id": "ENSP00000301924.4",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 493,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_171982.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305364.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.*368G>T",
"hgvs_p": null,
"transcript": "ENST00000521253.1",
"protein_id": "ENSP00000428770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521253.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.526G>T",
"hgvs_p": "p.Val176Leu",
"transcript": "ENST00000853030.1",
"protein_id": "ENSP00000523089.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 239,
"cds_start": 526,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853030.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Val280Leu",
"transcript": "XM_047421602.1",
"protein_id": "XP_047277558.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 343,
"cds_start": 838,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.*368G>T",
"hgvs_p": null,
"transcript": "NM_001362813.2",
"protein_id": "NP_001349742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362813.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.*368G>T",
"hgvs_p": null,
"transcript": "NM_001304495.2",
"protein_id": "NP_001291424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304495.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"hgvs_c": "c.288+292G>T",
"hgvs_p": null,
"transcript": "ENST00000521283.1",
"protein_id": "ENSP00000429356.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521283.1"
}
],
"gene_symbol": "TRIM35",
"gene_hgnc_id": 16285,
"dbsnp": "rs199652032",
"frequency_reference_population": 0.00045274667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 729,
"gnomad_exomes_af": 0.000477387,
"gnomad_genomes_af": 0.000216769,
"gnomad_exomes_ac": 696,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48385539650917053,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.611,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5833,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.286,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_171982.5",
"gene_symbol": "TRIM35",
"hgnc_id": 16285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1288G>T",
"hgvs_p": "p.Val430Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}