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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: 15-77615038-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77615038&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 77615038,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000355300.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "NM_032808.7",
"protein_id": "NP_116197.4",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 620,
"cds_start": 869,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": "ENST00000355300.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000355300.7",
"protein_id": "ENSP00000347451.6",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 620,
"cds_start": 869,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": "NM_032808.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "ENST00000561030.5",
"protein_id": "ENSP00000453853.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301186.2",
"protein_id": "NP_001288115.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301187.2",
"protein_id": "NP_001288116.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301189.2",
"protein_id": "NP_001288118.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301191.2",
"protein_id": "NP_001288120.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301192.2",
"protein_id": "NP_001288121.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301194.2",
"protein_id": "NP_001288123.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301195.2",
"protein_id": "NP_001288124.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301197.2",
"protein_id": "NP_001288126.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301198.2",
"protein_id": "NP_001288127.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301199.2",
"protein_id": "NP_001288128.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "NM_001301200.2",
"protein_id": "NP_001288129.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295His",
"transcript": "ENST00000557798.1",
"protein_id": "ENSP00000453780.1",
"transcript_support_level": 3,
"aa_start": 295,
"aa_end": null,
"aa_length": 325,
"cds_start": 884,
"cds_end": null,
"cds_length": 978,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "XM_011522118.3",
"protein_id": "XP_011520420.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "XM_017022682.2",
"protein_id": "XP_016878171.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284His",
"transcript": "XM_024450091.2",
"protein_id": "XP_024305859.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 614,
"cds_start": 851,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105370906",
"gene_hgnc_id": null,
"hgvs_c": "n.689-15247C>T",
"hgvs_p": null,
"transcript": "XR_001751806.2",
"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": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"dbsnp": "rs757077698",
"frequency_reference_population": 0.000011153508,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000957785,
"gnomad_genomes_af": 0.0000262923,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8421446681022644,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.735,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1232,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.164,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355300.7",
"gene_symbol": "LINGO1",
"hgnc_id": 21205,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001751806.2",
"gene_symbol": "LOC105370906",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.689-15247C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive 64,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal recessive 64",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}