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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: 20-38373117-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38373117&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38373117,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004139.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Phe436Leu",
"transcript": "NM_004139.5",
"protein_id": "NP_004130.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 481,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217407.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004139.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Phe436Leu",
"transcript": "ENST00000217407.3",
"protein_id": "ENSP00000217407.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 481,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004139.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217407.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1363T>C",
"hgvs_p": "p.Phe455Leu",
"transcript": "ENST00000901257.1",
"protein_id": "ENSP00000571316.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 500,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901257.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1297T>C",
"hgvs_p": "p.Phe433Leu",
"transcript": "ENST00000901253.1",
"protein_id": "ENSP00000571312.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 478,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901253.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1294T>C",
"hgvs_p": "p.Phe432Leu",
"transcript": "ENST00000901256.1",
"protein_id": "ENSP00000571315.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 477,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901256.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1279T>C",
"hgvs_p": "p.Phe427Leu",
"transcript": "ENST00000901258.1",
"protein_id": "ENSP00000571317.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 472,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901258.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Phe416Leu",
"transcript": "ENST00000901255.1",
"protein_id": "ENSP00000571314.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 461,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901255.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1180T>C",
"hgvs_p": "p.Phe394Leu",
"transcript": "ENST00000968709.1",
"protein_id": "ENSP00000638768.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 439,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968709.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1177T>C",
"hgvs_p": "p.Phe393Leu",
"transcript": "ENST00000901252.1",
"protein_id": "ENSP00000571311.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 438,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901252.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"hgvs_c": "c.1150T>C",
"hgvs_p": "p.Phe384Leu",
"transcript": "ENST00000901254.1",
"protein_id": "ENSP00000571313.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 429,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901254.1"
}
],
"gene_symbol": "LBP",
"gene_hgnc_id": 6517,
"dbsnp": "rs2232618",
"frequency_reference_population": 0.09373388,
"hom_count_reference_population": 8096,
"allele_count_reference_population": 151150,
"gnomad_exomes_af": 0.0913504,
"gnomad_genomes_af": 0.116607,
"gnomad_exomes_ac": 133405,
"gnomad_genomes_ac": 17745,
"gnomad_exomes_homalt": 6830,
"gnomad_genomes_homalt": 1266,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02194392681121826,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.1773,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_004139.5",
"gene_symbol": "LBP",
"hgnc_id": 6517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Phe436Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}