← 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: 12-56418138-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56418138&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56418138,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003920.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3450A>G",
"hgvs_p": "p.Pro1150Pro",
"transcript": "NM_003920.5",
"protein_id": "NP_003911.2",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": "ENST00000553532.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003920.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3450A>G",
"hgvs_p": "p.Pro1150Pro",
"transcript": "ENST00000553532.6",
"protein_id": "ENSP00000450607.1",
"transcript_support_level": 1,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": "NM_003920.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553532.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3471A>G",
"hgvs_p": "p.Pro1157Pro",
"transcript": "ENST00000865172.1",
"protein_id": "ENSP00000535231.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3629,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865172.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3471A>G",
"hgvs_p": "p.Pro1157Pro",
"transcript": "ENST00000927926.1",
"protein_id": "ENSP00000597985.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927926.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3462A>G",
"hgvs_p": "p.Pro1154Pro",
"transcript": "ENST00000865170.1",
"protein_id": "ENSP00000535229.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3640,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865170.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3459A>G",
"hgvs_p": "p.Pro1153Pro",
"transcript": "ENST00000927924.1",
"protein_id": "ENSP00000597983.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3459,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927924.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3450A>G",
"hgvs_p": "p.Pro1150Pro",
"transcript": "ENST00000865173.1",
"protein_id": "ENSP00000535232.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865173.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3450A>G",
"hgvs_p": "p.Pro1150Pro",
"transcript": "ENST00000971076.1",
"protein_id": "ENSP00000641135.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971076.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3447A>G",
"hgvs_p": "p.Pro1149Pro",
"transcript": "NM_001330295.2",
"protein_id": "NP_001317224.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3447,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330295.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3447A>G",
"hgvs_p": "p.Pro1149Pro",
"transcript": "ENST00000229201.4",
"protein_id": "ENSP00000229201.4",
"transcript_support_level": 5,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3447,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229201.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3444A>G",
"hgvs_p": "p.Pro1148Pro",
"transcript": "ENST00000927921.1",
"protein_id": "ENSP00000597980.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3444,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927921.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3441A>G",
"hgvs_p": "p.Pro1147Pro",
"transcript": "ENST00000927925.1",
"protein_id": "ENSP00000597984.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3601,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927925.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3414A>G",
"hgvs_p": "p.Pro1138Pro",
"transcript": "ENST00000927922.1",
"protein_id": "ENSP00000597981.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927922.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3411A>G",
"hgvs_p": "p.Pro1137Pro",
"transcript": "ENST00000927923.1",
"protein_id": "ENSP00000597982.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1195,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3578,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927923.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3390A>G",
"hgvs_p": "p.Pro1130Pro",
"transcript": "ENST00000865171.1",
"protein_id": "ENSP00000535230.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3390,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865171.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "c.3387A>G",
"hgvs_p": "p.Pro1129Pro",
"transcript": "ENST00000927920.1",
"protein_id": "ENSP00000597979.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3387,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3545,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "n.2018A>G",
"hgvs_p": null,
"transcript": "ENST00000557589.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000557589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "n.3587A>G",
"hgvs_p": null,
"transcript": "NR_138471.2",
"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": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138471.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"hgvs_c": "n.*152A>G",
"hgvs_p": null,
"transcript": "ENST00000553314.1",
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553314.1"
}
],
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"dbsnp": "rs753246427",
"frequency_reference_population": 0.000016108128,
"hom_count_reference_population": 1,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000157332,
"gnomad_genomes_af": 0.0000197086,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.379,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003920.5",
"gene_symbol": "TIMELESS",
"hgnc_id": 11813,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3450A>G",
"hgvs_p": "p.Pro1150Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}