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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: 2-3479434-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3479434&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3479434,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000324266.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>G",
"hgvs_p": "p.Phe727Leu",
"transcript": "NM_016030.6",
"protein_id": "NP_057114.5",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "ENST00000324266.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>G",
"hgvs_p": "p.Phe727Leu",
"transcript": "ENST00000324266.10",
"protein_id": "ENSP00000324318.5",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "NM_016030.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>G",
"hgvs_p": "p.Phe727Leu",
"transcript": "NM_001321102.2",
"protein_id": "NP_001308031.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>G",
"hgvs_p": "p.Phe727Leu",
"transcript": "ENST00000382110.6",
"protein_id": "ENSP00000371544.2",
"transcript_support_level": 2,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.678C>G",
"hgvs_p": "p.Phe226Leu",
"transcript": "ENST00000415624.5",
"protein_id": "ENSP00000396592.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 234,
"cds_start": 678,
"cds_end": null,
"cds_length": 705,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Phe113Leu",
"transcript": "ENST00000416918.5",
"protein_id": "ENSP00000395420.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 121,
"cds_start": 339,
"cds_end": null,
"cds_length": 366,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2067C>G",
"hgvs_p": "p.Phe689Leu",
"transcript": "XM_011510350.3",
"protein_id": "XP_011508652.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 697,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2067C>G",
"hgvs_p": "p.Phe689Leu",
"transcript": "XM_047444637.1",
"protein_id": "XP_047300593.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 697,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.1236C>G",
"hgvs_p": "p.Phe412Leu",
"transcript": "XM_011510355.3",
"protein_id": "XP_011508657.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 420,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Phe371Leu",
"transcript": "XM_011510356.2",
"protein_id": "XP_011508658.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 379,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "n.*277C>G",
"hgvs_p": null,
"transcript": "ENST00000417243.5",
"protein_id": "ENSP00000399909.1",
"transcript_support_level": 5,
"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": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "n.587C>G",
"hgvs_p": null,
"transcript": "ENST00000469400.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "n.436C>G",
"hgvs_p": null,
"transcript": "ENST00000493792.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "n.3269C>G",
"hgvs_p": null,
"transcript": "ENST00000497597.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3401,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12-AS1",
"gene_hgnc_id": 41046,
"hgvs_c": "n.3560G>C",
"hgvs_p": null,
"transcript": "NR_046720.1",
"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": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "n.2267C>G",
"hgvs_p": null,
"transcript": "XR_426956.4",
"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": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "n.*277C>G",
"hgvs_p": null,
"transcript": "ENST00000417243.5",
"protein_id": "ENSP00000399909.1",
"transcript_support_level": 5,
"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": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.168+501C>G",
"hgvs_p": null,
"transcript": "ENST00000452495.1",
"protein_id": "ENSP00000396407.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"dbsnp": "rs6767",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6518763899803162,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.602,
"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": "ENST00000324266.10",
"gene_symbol": "TRAPPC12",
"hgnc_id": 24284,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2181C>G",
"hgvs_p": "p.Phe727Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_046720.1",
"gene_symbol": "TRAPPC12-AS1",
"hgnc_id": 41046,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3560G>C",
"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
}