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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: 8-140397676-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=140397676&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 140397676,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000438773.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "NM_001160372.4",
"protein_id": "NP_001153844.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6899,
"mane_select": "ENST00000438773.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "ENST00000438773.4",
"protein_id": "ENSP00000405060.3",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6899,
"mane_select": "NM_001160372.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Trp",
"transcript": "ENST00000520857.5",
"protein_id": "ENSP00000430116.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 991,
"cds_start": 607,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Trp",
"transcript": "NM_001374682.1",
"protein_id": "NP_001361611.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 1155,
"cds_start": 1099,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "NM_031466.8",
"protein_id": "NP_113654.5",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 7092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "ENST00000648948.2",
"protein_id": "ENSP00000498020.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 7092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "NM_001321646.2",
"protein_id": "NP_001308575.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1051,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 6872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "NM_001374683.1",
"protein_id": "NP_001361612.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "NM_001374684.1",
"protein_id": "NP_001361613.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1345C>T",
"hgvs_p": "p.Arg449Trp",
"transcript": "XM_011517326.3",
"protein_id": "XP_011515628.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1345,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 7065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Trp",
"transcript": "XM_011517328.3",
"protein_id": "XP_011515630.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1372,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1345C>T",
"hgvs_p": "p.Arg449Trp",
"transcript": "XM_047422294.1",
"protein_id": "XP_047278250.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1345,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "XM_047422295.1",
"protein_id": "XP_047278251.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1041,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3126,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "XM_047422296.1",
"protein_id": "XP_047278252.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1078,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "XM_047422297.1",
"protein_id": "XP_047278253.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1051,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Trp",
"transcript": "XM_017013893.2",
"protein_id": "XP_016869382.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 989,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Trp",
"transcript": "XM_047422298.1",
"protein_id": "XP_047278254.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 964,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "XM_047422299.1",
"protein_id": "XP_047278255.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 891,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "n.1167C>T",
"hgvs_p": null,
"transcript": "NR_164662.1",
"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": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"dbsnp": "rs374392590",
"frequency_reference_population": 0.000039649745,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000403598,
"gnomad_genomes_af": 0.0000328338,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7003669738769531,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.3974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.045,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000438773.4",
"gene_symbol": "TRAPPC9",
"hgnc_id": 30832,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}