← Back to variant description
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: 1-36137245-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36137245&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TRAPPC3",
"hgnc_id": 19942,
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Phe175Phe",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001270894.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 180,
"aa_ref": "F",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 609,
"cds_end": null,
"cds_length": 543,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014408.5",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Phe167Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373166.8",
"protein_coding": true,
"protein_id": "NP_055223.1",
"strand": false,
"transcript": "NM_014408.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 180,
"aa_ref": "F",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 609,
"cds_end": null,
"cds_length": 543,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373166.8",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Phe167Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014408.5",
"protein_coding": true,
"protein_id": "ENSP00000362261.3",
"strand": false,
"transcript": "ENST00000373166.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 195,
"aa_ref": "F",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 653,
"cds_end": null,
"cds_length": 588,
"cds_start": 546,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000923688.1",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Phe182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593747.1",
"strand": false,
"transcript": "ENST00000923688.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 188,
"aa_ref": "F",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 633,
"cds_end": null,
"cds_length": 567,
"cds_start": 525,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270894.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Phe175Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257823.1",
"strand": false,
"transcript": "NM_001270894.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 188,
"aa_ref": "F",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 661,
"cds_end": null,
"cds_length": 567,
"cds_start": 525,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000616395.4",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Phe175Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480332.1",
"strand": false,
"transcript": "ENST00000616395.4",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 178,
"aa_ref": "F",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1279,
"cdna_start": 608,
"cds_end": null,
"cds_length": 537,
"cds_start": 495,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000905432.1",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Phe165Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575491.1",
"strand": false,
"transcript": "ENST00000905432.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 134,
"aa_ref": "F",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 630,
"cds_end": null,
"cds_length": 405,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270895.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Phe121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257824.1",
"strand": false,
"transcript": "NM_001270895.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 134,
"aa_ref": "F",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 854,
"cds_end": null,
"cds_length": 405,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270896.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Phe121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257825.1",
"strand": false,
"transcript": "NM_001270896.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 134,
"aa_ref": "F",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 865,
"cds_end": null,
"cds_length": 405,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373162.5",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Phe121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362256.1",
"strand": false,
"transcript": "ENST00000373162.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 134,
"aa_ref": "F",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 651,
"cds_end": null,
"cds_length": 405,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373163.5",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Phe121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362257.1",
"strand": false,
"transcript": "ENST00000373163.5",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 134,
"aa_ref": "F",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 630,
"cds_end": null,
"cds_length": 405,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000617904.4",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Phe121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480648.1",
"strand": false,
"transcript": "ENST00000617904.4",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 114,
"aa_ref": "F",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 411,
"cds_end": null,
"cds_length": 345,
"cds_start": 303,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001270897.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Phe101Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257826.1",
"strand": false,
"transcript": "NM_001270897.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 114,
"aa_ref": "F",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1109,
"cdna_start": 436,
"cds_end": null,
"cds_length": 345,
"cds_start": 303,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000616074.5",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Phe101Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482052.1",
"strand": false,
"transcript": "ENST00000616074.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 112,
"aa_ref": "F",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 355,
"cds_end": null,
"cds_length": 339,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923687.1",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Phe99Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593746.1",
"strand": false,
"transcript": "ENST00000923687.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 96,
"aa_ref": "F",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 660,
"cds_end": null,
"cds_length": 291,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000851013.1",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Phe83Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521084.1",
"strand": false,
"transcript": "ENST00000851013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373159.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "n.*293C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000362253.1",
"strand": false,
"transcript": "ENST00000373159.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000462715.1",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "n.1764C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462715.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_073097.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "n.656C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_073097.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_073098.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "n.228C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_073098.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373159.2",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "n.*293C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000362253.1",
"strand": false,
"transcript": "ENST00000373159.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469757.1",
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"hgvs_c": "n.*17C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469757.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774816296",
"effect": "synonymous_variant",
"frequency_reference_population": 6.845517e-7,
"gene_hgnc_id": 19942,
"gene_symbol": "TRAPPC3",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84552e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.29,
"pos": 36137245,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001270894.2"
}
]
}