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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: 8-139731108-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=139731108&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 139731108,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001374682.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "NM_001160372.4",
"protein_id": "NP_001153844.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438773.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160372.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "ENST00000438773.4",
"protein_id": "ENSP00000405060.3",
"transcript_support_level": 1,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438773.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.2929T>A",
"hgvs_p": "p.Phe977Ile",
"transcript": "ENST00000520857.5",
"protein_id": "ENSP00000430116.1",
"transcript_support_level": 1,
"aa_start": 977,
"aa_end": null,
"aa_length": 991,
"cds_start": 2929,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520857.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "n.1805T>A",
"hgvs_p": null,
"transcript": "ENST00000521667.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521667.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3421T>A",
"hgvs_p": "p.Phe1141Ile",
"transcript": "NM_001374682.1",
"protein_id": "NP_001361611.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374682.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3421T>A",
"hgvs_p": "p.Phe1141Ile",
"transcript": "ENST00000889106.1",
"protein_id": "ENSP00000559165.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889106.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "NM_031466.8",
"protein_id": "NP_113654.5",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031466.8"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "ENST00000648948.2",
"protein_id": "ENSP00000498020.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648948.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "ENST00000889103.1",
"protein_id": "ENSP00000559162.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889103.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "ENST00000889105.1",
"protein_id": "ENSP00000559164.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889105.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3400T>A",
"hgvs_p": "p.Phe1134Ile",
"transcript": "ENST00000889109.1",
"protein_id": "ENSP00000559168.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889109.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3394T>A",
"hgvs_p": "p.Phe1132Ile",
"transcript": "ENST00000967712.1",
"protein_id": "ENSP00000637771.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3394,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967712.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3373T>A",
"hgvs_p": "p.Phe1125Ile",
"transcript": "NM_001321646.2",
"protein_id": "NP_001308575.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321646.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3367T>A",
"hgvs_p": "p.Phe1123Ile",
"transcript": "ENST00000920031.1",
"protein_id": "ENSP00000590090.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920031.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3364T>A",
"hgvs_p": "p.Phe1122Ile",
"transcript": "ENST00000920035.1",
"protein_id": "ENSP00000590094.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920035.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3289T>A",
"hgvs_p": "p.Phe1097Ile",
"transcript": "NM_001374683.1",
"protein_id": "NP_001361612.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374683.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3289T>A",
"hgvs_p": "p.Phe1097Ile",
"transcript": "ENST00000967713.1",
"protein_id": "ENSP00000637772.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967713.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3271T>A",
"hgvs_p": "p.Phe1091Ile",
"transcript": "ENST00000889107.1",
"protein_id": "ENSP00000559166.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889107.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3262T>A",
"hgvs_p": "p.Phe1088Ile",
"transcript": "ENST00000920033.1",
"protein_id": "ENSP00000590092.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1102,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920033.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3256T>A",
"hgvs_p": "p.Phe1086Ile",
"transcript": "NM_001374684.1",
"protein_id": "NP_001361613.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3256,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374684.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3256T>A",
"hgvs_p": "p.Phe1086Ile",
"transcript": "ENST00000889102.1",
"protein_id": "ENSP00000559161.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3256,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889102.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC9",
"gene_hgnc_id": 30832,
"hgvs_c": "c.3244T>A",
"hgvs_p": "p.Phe1082Ile",
"transcript": "ENST00000889108.1",
"protein_id": "ENSP00000559167.1",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}