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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: 13-75286879-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75286879&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 75286879,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000377636.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3810C>T",
"hgvs_p": "p.Pro1270Pro",
"transcript": "NM_014832.5",
"protein_id": "NP_055647.2",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3810,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4212,
"cdna_end": null,
"cdna_length": 7588,
"mane_select": "ENST00000377636.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3810C>T",
"hgvs_p": "p.Pro1270Pro",
"transcript": "ENST00000377636.8",
"protein_id": "ENSP00000366863.3",
"transcript_support_level": 2,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3810,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4212,
"cdna_end": null,
"cdna_length": 7588,
"mane_select": "NM_014832.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3786C>T",
"hgvs_p": "p.Pro1262Pro",
"transcript": "ENST00000431480.6",
"protein_id": "ENSP00000395986.2",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3786,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3621C>T",
"hgvs_p": "p.Pro1207Pro",
"transcript": "ENST00000377625.6",
"protein_id": "ENSP00000366852.2",
"transcript_support_level": 1,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3621,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3968,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3786C>T",
"hgvs_p": "p.Pro1262Pro",
"transcript": "NM_001286658.2",
"protein_id": "NP_001273587.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3786,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 4187,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3621C>T",
"hgvs_p": "p.Pro1207Pro",
"transcript": "NM_001286659.2",
"protein_id": "NP_001273588.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3621,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3078C>T",
"hgvs_p": "p.Pro1026Pro",
"transcript": "ENST00000648194.1",
"protein_id": "ENSP00000496983.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 6656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3735C>T",
"hgvs_p": "p.Pro1245Pro",
"transcript": "XM_005266603.3",
"protein_id": "XP_005266660.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3735,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4137,
"cdna_end": null,
"cdna_length": 7513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3711C>T",
"hgvs_p": "p.Pro1237Pro",
"transcript": "XM_047430808.1",
"protein_id": "XP_047286764.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3711,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4113,
"cdna_end": null,
"cdna_length": 7489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3699C>T",
"hgvs_p": "p.Pro1233Pro",
"transcript": "XM_011535331.3",
"protein_id": "XP_011533633.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3699,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3546C>T",
"hgvs_p": "p.Pro1182Pro",
"transcript": "XM_047430809.1",
"protein_id": "XP_047286765.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3510C>T",
"hgvs_p": "p.Pro1170Pro",
"transcript": "XM_047430810.1",
"protein_id": "XP_047286766.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3510,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3435C>T",
"hgvs_p": "p.Pro1145Pro",
"transcript": "XM_047430811.1",
"protein_id": "XP_047286767.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3435,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 7213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.3336C>T",
"hgvs_p": "p.Pro1112Pro",
"transcript": "XM_006719903.4",
"protein_id": "XP_006719966.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3336,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 11053,
"cdna_end": null,
"cdna_length": 14429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.Pro487Pro",
"transcript": "XM_047430812.1",
"protein_id": "XP_047286768.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 515,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D4",
"gene_hgnc_id": 19165,
"dbsnp": "rs374784151",
"frequency_reference_population": 0.00007311889,
"hom_count_reference_population": 0,
"allele_count_reference_population": 118,
"gnomad_exomes_af": 0.0000718339,
"gnomad_genomes_af": 0.0000854678,
"gnomad_exomes_ac": 105,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.024,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377636.8",
"gene_symbol": "TBC1D4",
"hgnc_id": 19165,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3810C>T",
"hgvs_p": "p.Pro1270Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}