← 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: 13-75292232-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75292232&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D4",
"hgnc_id": 19165,
"hgvs_c": "c.3356T>C",
"hgvs_p": "p.Val1119Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_014832.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1555,
"alphamissense_prediction": null,
"alphamissense_score": 0.5848,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "13",
"clinvar_classification": "Benign",
"clinvar_disease": "TBC1D4-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010081887245178223,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "V",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7588,
"cdna_start": 3758,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3356,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_014832.5",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3356T>C",
"hgvs_p": "p.Val1119Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377636.8",
"protein_coding": true,
"protein_id": "NP_055647.2",
"strand": false,
"transcript": "NM_014832.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "V",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7588,
"cdna_start": 3758,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3356,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000377636.8",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3356T>C",
"hgvs_p": "p.Val1119Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014832.5",
"protein_coding": true,
"protein_id": "ENSP00000366863.3",
"strand": false,
"transcript": "ENST00000377636.8",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "V",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6347,
"cdna_start": 3679,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000431480.6",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3332T>C",
"hgvs_p": "p.Val1111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395986.2",
"strand": false,
"transcript": "ENST00000431480.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "V",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6182,
"cdna_start": 3514,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000377625.6",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3167T>C",
"hgvs_p": "p.Val1056Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366852.2",
"strand": false,
"transcript": "ENST00000377625.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "V",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6402,
"cdna_start": 3733,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001286658.2",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3332T>C",
"hgvs_p": "p.Val1111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273587.1",
"strand": false,
"transcript": "NM_001286658.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "V",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 4020,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000954256.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3281T>C",
"hgvs_p": "p.Val1094Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624315.1",
"strand": false,
"transcript": "ENST00000954256.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "V",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6406,
"cdna_start": 3749,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3191,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000954257.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3191T>C",
"hgvs_p": "p.Val1064Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624316.1",
"strand": false,
"transcript": "ENST00000954257.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "V",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6222,
"cdna_start": 3563,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3170,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000954258.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3170T>C",
"hgvs_p": "p.Val1057Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624317.1",
"strand": false,
"transcript": "ENST00000954258.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "V",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6237,
"cdna_start": 3568,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001286659.2",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3167T>C",
"hgvs_p": "p.Val1056Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273588.1",
"strand": false,
"transcript": "NM_001286659.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 3976,
"cds_end": null,
"cds_length": 3633,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000954254.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Val1031Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624313.1",
"strand": false,
"transcript": "ENST00000954254.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "V",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6436,
"cdna_start": 3776,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3056,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000881333.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3056T>C",
"hgvs_p": "p.Val1019Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551392.1",
"strand": false,
"transcript": "ENST00000881333.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "V",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": 3512,
"cds_end": null,
"cds_length": 3171,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954255.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.2630T>C",
"hgvs_p": "p.Val877Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624314.1",
"strand": false,
"transcript": "ENST00000954255.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "V",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6656,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000648194.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.2624T>C",
"hgvs_p": "p.Val875Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496983.1",
"strand": false,
"transcript": "ENST00000648194.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "V",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": 3683,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_005266603.3",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3281T>C",
"hgvs_p": "p.Val1094Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266660.1",
"strand": false,
"transcript": "XM_005266603.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "V",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7489,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047430808.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3257T>C",
"hgvs_p": "p.Val1086Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286764.1",
"strand": false,
"transcript": "XM_047430808.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "V",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7477,
"cdna_start": 3647,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3245,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011535331.3",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3245T>C",
"hgvs_p": "p.Val1082Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533633.1",
"strand": false,
"transcript": "XM_011535331.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7324,
"cdna_start": 3494,
"cds_end": null,
"cds_length": 3633,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047430809.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Val1031Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286765.1",
"strand": false,
"transcript": "XM_047430809.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "V",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7288,
"cdna_start": 3458,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3056,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047430810.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3056T>C",
"hgvs_p": "p.Val1019Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286766.1",
"strand": false,
"transcript": "XM_047430810.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "V",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7213,
"cdna_start": 3383,
"cds_end": null,
"cds_length": 3522,
"cds_start": 2981,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047430811.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.2981T>C",
"hgvs_p": "p.Val994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286767.1",
"strand": false,
"transcript": "XM_047430811.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "V",
"aa_start": 961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14429,
"cdna_start": 10599,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2882,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_006719903.4",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.2882T>C",
"hgvs_p": "p.Val961Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719966.1",
"strand": false,
"transcript": "XM_006719903.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 515,
"aa_ref": "V",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5316,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430812.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Val336Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286768.1",
"strand": false,
"transcript": "XM_047430812.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs58232698",
"effect": "missense_variant",
"frequency_reference_population": 0.0009639358,
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"gnomad_exomes_ac": 736,
"gnomad_exomes_af": 0.000503806,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 819,
"gnomad_genomes_af": 0.00537761,
"gnomad_genomes_homalt": 7,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 10,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|TBC1D4-related disorder|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.151,
"pos": 75292232,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.424,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.14000000059604645,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.14,
"transcript": "NM_014832.5"
}
]
}