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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: 14-76866065-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=76866065&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 76866065,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000689127.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1298T>A",
"hgvs_p": "p.Val433Glu",
"transcript": "NM_001385106.1",
"protein_id": "NP_001372035.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 471,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": "ENST00000689127.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1298T>A",
"hgvs_p": "p.Val433Glu",
"transcript": "ENST00000689127.1",
"protein_id": "ENSP00000509938.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 471,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": "NM_001385106.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1349T>A",
"hgvs_p": "p.Val450Glu",
"transcript": "ENST00000393774.7",
"protein_id": "ENSP00000377369.3",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 488,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1349T>A",
"hgvs_p": "p.Val450Glu",
"transcript": "NM_194287.3",
"protein_id": "NP_919263.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 488,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1277T>A",
"hgvs_p": "p.Val426Glu",
"transcript": "NM_001385107.1",
"protein_id": "NP_001372036.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 464,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1166T>A",
"hgvs_p": "p.Val389Glu",
"transcript": "NM_001385108.1",
"protein_id": "NP_001372037.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 427,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1166T>A",
"hgvs_p": "p.Val389Glu",
"transcript": "ENST00000691684.1",
"protein_id": "ENSP00000509131.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 427,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1043T>A",
"hgvs_p": "p.Val348Glu",
"transcript": "ENST00000691122.1",
"protein_id": "ENSP00000510779.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 386,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1298T>A",
"hgvs_p": "p.Val433Glu",
"transcript": "XM_017021035.3",
"protein_id": "XP_016876524.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 496,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"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": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1277T>A",
"hgvs_p": "p.Val426Glu",
"transcript": "XM_047431012.1",
"protein_id": "XP_047286968.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 489,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "c.1166T>A",
"hgvs_p": "p.Val389Glu",
"transcript": "XM_047431013.1",
"protein_id": "XP_047286969.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 452,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "n.*649T>A",
"hgvs_p": null,
"transcript": "ENST00000216450.7",
"protein_id": "ENSP00000216450.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "n.*1082T>A",
"hgvs_p": null,
"transcript": "ENST00000484640.6",
"protein_id": "ENSP00000452348.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "n.1591T>A",
"hgvs_p": null,
"transcript": "NR_169572.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "n.1340T>A",
"hgvs_p": null,
"transcript": "NR_169573.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "n.*649T>A",
"hgvs_p": null,
"transcript": "ENST00000216450.7",
"protein_id": "ENSP00000216450.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"hgvs_c": "n.*1082T>A",
"hgvs_p": null,
"transcript": "ENST00000484640.6",
"protein_id": "ENSP00000452348.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRRC74A",
"gene_hgnc_id": 23346,
"dbsnp": "rs7160583",
"frequency_reference_population": 7.1146934e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.11469e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12673017382621765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1446,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.322,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000689127.1",
"gene_symbol": "LRRC74A",
"hgnc_id": 23346,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1298T>A",
"hgvs_p": "p.Val433Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}