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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: 4-146707504-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=146707504&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 146707504,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001300761.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "NM_031956.4",
"protein_id": "NP_114162.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 475,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325106.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031956.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "ENST00000325106.9",
"protein_id": "ENSP00000316740.4",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 475,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031956.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325106.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "n.*440C>T",
"hgvs_p": null,
"transcript": "ENST00000508306.5",
"protein_id": "ENSP00000422648.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508306.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "n.*440C>T",
"hgvs_p": null,
"transcript": "ENST00000508306.5",
"protein_id": "ENSP00000422648.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508306.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486Cys",
"transcript": "NM_001300761.4",
"protein_id": "NP_001287690.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 501,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300761.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486Cys",
"transcript": "ENST00000513335.5",
"protein_id": "ENSP00000423505.1",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 501,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513335.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "ENST00000873385.1",
"protein_id": "ENSP00000543444.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 475,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873385.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "ENST00000873386.1",
"protein_id": "ENSP00000543445.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 475,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873386.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Arg459Cys",
"transcript": "NM_001317806.3",
"protein_id": "NP_001304735.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 474,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317806.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Arg459Cys",
"transcript": "ENST00000504425.5",
"protein_id": "ENSP00000425778.1",
"transcript_support_level": 5,
"aa_start": 459,
"aa_end": null,
"aa_length": 474,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504425.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000873387.1",
"protein_id": "ENSP00000543446.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 404,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873387.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486Cys",
"transcript": "XM_047416240.1",
"protein_id": "XP_047272196.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 501,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416240.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Arg485Cys",
"transcript": "XM_006714335.2",
"protein_id": "XP_006714398.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 500,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714335.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Cys",
"transcript": "XM_005263270.2",
"protein_id": "XP_005263327.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 492,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263270.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476Cys",
"transcript": "XM_006714336.2",
"protein_id": "XP_006714399.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714336.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424Cys",
"transcript": "XM_006714339.3",
"protein_id": "XP_006714402.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 439,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714339.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.*86C>T",
"hgvs_p": null,
"transcript": "XM_047416241.1",
"protein_id": "XP_047272197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "c.*86C>T",
"hgvs_p": null,
"transcript": "XM_047416242.1",
"protein_id": "XP_047272198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416242.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "n.422C>T",
"hgvs_p": null,
"transcript": "ENST00000504272.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000504272.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"hgvs_c": "n.1741C>T",
"hgvs_p": null,
"transcript": "NR_133922.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_133922.3"
}
],
"gene_symbol": "TTC29",
"gene_hgnc_id": 29936,
"dbsnp": "rs201238305",
"frequency_reference_population": 0.00013975675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 225,
"gnomad_exomes_af": 0.000121403,
"gnomad_genomes_af": 0.000315823,
"gnomad_exomes_ac": 177,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015019059181213379,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.312,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001300761.4",
"gene_symbol": "TTC29",
"hgnc_id": 29936,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}