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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: 15-77615193-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77615193&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 77615193,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000355300.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.714G>A",
"hgvs_p": "p.Leu238Leu",
"transcript": "NM_032808.7",
"protein_id": "NP_116197.4",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 620,
"cds_start": 714,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": "ENST00000355300.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.714G>A",
"hgvs_p": "p.Leu238Leu",
"transcript": "ENST00000355300.7",
"protein_id": "ENSP00000347451.6",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 620,
"cds_start": 714,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": "NM_032808.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "ENST00000561030.5",
"protein_id": "ENSP00000453853.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301186.2",
"protein_id": "NP_001288115.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301187.2",
"protein_id": "NP_001288116.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301189.2",
"protein_id": "NP_001288118.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301191.2",
"protein_id": "NP_001288120.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301192.2",
"protein_id": "NP_001288121.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301194.2",
"protein_id": "NP_001288123.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301195.2",
"protein_id": "NP_001288124.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301197.2",
"protein_id": "NP_001288126.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301198.2",
"protein_id": "NP_001288127.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301199.2",
"protein_id": "NP_001288128.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "NM_001301200.2",
"protein_id": "NP_001288129.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.729G>A",
"hgvs_p": "p.Leu243Leu",
"transcript": "ENST00000557798.1",
"protein_id": "ENSP00000453780.1",
"transcript_support_level": 3,
"aa_start": 243,
"aa_end": null,
"aa_length": 325,
"cds_start": 729,
"cds_end": null,
"cds_length": 978,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "XM_011522118.3",
"protein_id": "XP_011520420.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "XM_017022682.2",
"protein_id": "XP_016878171.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.696G>A",
"hgvs_p": "p.Leu232Leu",
"transcript": "XM_024450091.2",
"protein_id": "XP_024305859.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 614,
"cds_start": 696,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1219,
"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.689-15092C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"hgvs_c": "c.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000561686.5",
"protein_id": "ENSP00000455605.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LINGO1",
"gene_hgnc_id": 21205,
"dbsnp": "rs2271396",
"frequency_reference_population": 0.000008676779,
"hom_count_reference_population": 1,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889431,
"gnomad_genomes_af": 0.00000658354,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.096,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355300.7",
"gene_symbol": "LINGO1",
"hgnc_id": 21205,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Leu238Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001751806.2",
"gene_symbol": "LOC105370906",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.689-15092C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}