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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: 8-123082730-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=123082730&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D31",
"hgnc_id": 30888,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_145647.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 72,
"alphamissense_prediction": null,
"alphamissense_score": 0.3677,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5394806861877441,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": 316,
"cds_end": null,
"cds_length": 3201,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_145647.4",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287380.6",
"protein_coding": true,
"protein_id": "NP_663622.2",
"strand": true,
"transcript": "NM_145647.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": 316,
"cds_end": null,
"cds_length": 3201,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000287380.6",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145647.4",
"protein_coding": true,
"protein_id": "ENSP00000287380.1",
"strand": true,
"transcript": "ENST00000287380.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 970,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2913,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000327098.9",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312701.5",
"strand": true,
"transcript": "ENST00000327098.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 961,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": null,
"cds_end": null,
"cds_length": 2886,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000522420.5",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.26-1432G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429334.1",
"strand": true,
"transcript": "ENST00000522420.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000518099.5",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "n.300G>A",
"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": "ENST00000518099.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 329,
"cds_end": null,
"cds_length": 3198,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865422.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535481.1",
"strand": true,
"transcript": "ENST00000865422.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 359,
"cds_end": null,
"cds_length": 3171,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363149.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Ala75Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350078.1",
"strand": true,
"transcript": "NM_001363149.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 316,
"cds_end": null,
"cds_length": 3108,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363150.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350079.1",
"strand": true,
"transcript": "NM_001363150.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": 291,
"cds_end": null,
"cds_length": 3108,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865423.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535482.1",
"strand": true,
"transcript": "ENST00000865423.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 316,
"cds_end": null,
"cds_length": 3006,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363148.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350077.1",
"strand": true,
"transcript": "NM_001363148.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 401,
"cds_end": null,
"cds_length": 3006,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865421.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535480.1",
"strand": true,
"transcript": "ENST00000865421.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 983,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2952,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363151.2",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350080.1",
"strand": true,
"transcript": "NM_001363151.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 970,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2913,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145088.2",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138560.1",
"strand": true,
"transcript": "NM_001145088.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 922,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2769,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363153.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350082.1",
"strand": true,
"transcript": "NM_001363153.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 922,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 267,
"cds_end": null,
"cds_length": 2769,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865424.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535483.1",
"strand": true,
"transcript": "ENST00000865424.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 246,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 879,
"cdna_start": 359,
"cds_end": null,
"cds_length": 743,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522276.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Ala75Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428891.1",
"strand": true,
"transcript": "ENST00000522276.1",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 316,
"cds_end": null,
"cds_length": 3147,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011517379.3",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515681.1",
"strand": true,
"transcript": "XM_011517379.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 359,
"cds_end": null,
"cds_length": 3078,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422424.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Ala75Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278380.1",
"strand": true,
"transcript": "XM_047422424.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 991,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2976,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422425.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Ala75Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278381.1",
"strand": true,
"transcript": "XM_047422425.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 987,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2964,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005251104.2",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251161.1",
"strand": true,
"transcript": "XM_005251104.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 977,
"aa_ref": "A",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2934,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422426.1",
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Ala75Thr",
"intron_rank": null,
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"strand": true,
"transcript": "ENST00000524307.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780472552",
"effect": "missense_variant",
"frequency_reference_population": 0.00004464906,
"gene_hgnc_id": 30888,
"gene_symbol": "TBC1D31",
"gnomad_exomes_ac": 71,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656996,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.425,
"pos": 123082730,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.214,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.12999999523162842,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_145647.4"
}
]
}