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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: 12-56417983-CG-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56417983&ref=CG&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TIMELESS",
"hgnc_id": 11813,
"hgvs_c": "c.3479_3480delCGinsAA",
"hgvs_p": "p.Pro1160Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003920.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "P",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 3658,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003920.5",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3479_3480delCGinsAA",
"hgvs_p": "p.Pro1160Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000553532.6",
"protein_coding": true,
"protein_id": "NP_003911.2",
"strand": false,
"transcript": "NM_003920.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "P",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5158,
"cdna_start": 3658,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553532.6",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3479_3480delCGinsAA",
"hgvs_p": "p.Pro1160Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003920.5",
"protein_coding": true,
"protein_id": "ENSP00000450607.1",
"strand": false,
"transcript": "ENST00000553532.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "P",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 3648,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865172.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3500_3501delCGinsAA",
"hgvs_p": "p.Pro1167Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535231.1",
"strand": false,
"transcript": "ENST00000865172.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "P",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 3658,
"cds_end": null,
"cds_length": 3648,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927926.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3500_3501delCGinsAA",
"hgvs_p": "p.Pro1167Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597985.1",
"strand": false,
"transcript": "ENST00000927926.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "P",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 3639,
"cds_start": 3491,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865170.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3491_3492delCGinsAA",
"hgvs_p": "p.Pro1164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535229.1",
"strand": false,
"transcript": "ENST00000865170.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "P",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": 3656,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927924.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3488_3489delCGinsAA",
"hgvs_p": "p.Pro1163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597983.1",
"strand": false,
"transcript": "ENST00000927924.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "P",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4490,
"cdna_start": 3760,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865173.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3479_3480delCGinsAA",
"hgvs_p": "p.Pro1160Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535232.1",
"strand": false,
"transcript": "ENST00000865173.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "P",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 3858,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971076.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3479_3480delCGinsAA",
"hgvs_p": "p.Pro1160Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641135.1",
"strand": false,
"transcript": "ENST00000971076.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "P",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5155,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3476,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330295.2",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3476_3477delCGinsAA",
"hgvs_p": "p.Pro1159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317224.1",
"strand": false,
"transcript": "NM_001330295.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "P",
"aa_start": 1159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 3632,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3476,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000229201.4",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3476_3477delCGinsAA",
"hgvs_p": "p.Pro1159Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229201.4",
"strand": false,
"transcript": "ENST00000229201.4",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "P",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4790,
"cdna_start": 3649,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927921.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3473_3474delCGinsAA",
"hgvs_p": "p.Pro1158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597980.1",
"strand": false,
"transcript": "ENST00000927921.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "P",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 3631,
"cds_end": null,
"cds_length": 3618,
"cds_start": 3470,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927925.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3470_3471delCGinsAA",
"hgvs_p": "p.Pro1157Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597984.1",
"strand": false,
"transcript": "ENST00000927925.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "P",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 3641,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3443,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927922.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3443_3444delCGinsAA",
"hgvs_p": "p.Pro1148Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597981.1",
"strand": false,
"transcript": "ENST00000927922.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "P",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4347,
"cdna_start": 3608,
"cds_end": null,
"cds_length": 3588,
"cds_start": 3440,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927923.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3440_3441delCGinsAA",
"hgvs_p": "p.Pro1147Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597982.1",
"strand": false,
"transcript": "ENST00000927923.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "P",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4325,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3419,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865171.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3419_3420delCGinsAA",
"hgvs_p": "p.Pro1140Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535230.1",
"strand": false,
"transcript": "ENST00000865171.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 3575,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3416,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927920.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "c.3416_3417delCGinsAA",
"hgvs_p": "p.Pro1139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597979.1",
"strand": false,
"transcript": "ENST00000927920.1",
"transcript_support_level": null
},
{
"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": 2784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000557589.1",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "n.2047_2048delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000557589.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NR_138471.2",
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"hgvs_c": "n.3616_3617delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_138471.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11813,
"gene_symbol": "TIMELESS",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.225,
"pos": 56417983,
"ref": "CG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_003920.5"
}
]
}