← 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: 12-56418191-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56418191&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56418191,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003920.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3397G>T",
"hgvs_p": "p.Ala1133Ser",
"transcript": "NM_003920.5",
"protein_id": "NP_003911.2",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000553532.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003920.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3397G>T",
"hgvs_p": "p.Ala1133Ser",
"transcript": "ENST00000553532.6",
"protein_id": "ENSP00000450607.1",
"transcript_support_level": 1,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003920.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553532.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3418G>T",
"hgvs_p": "p.Ala1140Ser",
"transcript": "ENST00000865172.1",
"protein_id": "ENSP00000535231.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3418,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865172.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3418G>T",
"hgvs_p": "p.Ala1140Ser",
"transcript": "ENST00000927926.1",
"protein_id": "ENSP00000597985.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3418,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927926.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3409G>T",
"hgvs_p": "p.Ala1137Ser",
"transcript": "ENST00000865170.1",
"protein_id": "ENSP00000535229.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865170.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3406G>T",
"hgvs_p": "p.Ala1136Ser",
"transcript": "ENST00000927924.1",
"protein_id": "ENSP00000597983.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927924.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3397G>T",
"hgvs_p": "p.Ala1133Ser",
"transcript": "ENST00000865173.1",
"protein_id": "ENSP00000535232.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865173.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3397G>T",
"hgvs_p": "p.Ala1133Ser",
"transcript": "ENST00000971076.1",
"protein_id": "ENSP00000641135.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971076.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3394G>T",
"hgvs_p": "p.Ala1132Ser",
"transcript": "NM_001330295.2",
"protein_id": "NP_001317224.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3394,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330295.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3394G>T",
"hgvs_p": "p.Ala1132Ser",
"transcript": "ENST00000229201.4",
"protein_id": "ENSP00000229201.4",
"transcript_support_level": 5,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3394,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229201.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3391G>T",
"hgvs_p": "p.Ala1131Ser",
"transcript": "ENST00000927921.1",
"protein_id": "ENSP00000597980.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927921.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3388G>T",
"hgvs_p": "p.Ala1130Ser",
"transcript": "ENST00000927925.1",
"protein_id": "ENSP00000597984.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3388,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927925.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3361G>T",
"hgvs_p": "p.Ala1121Ser",
"transcript": "ENST00000927922.1",
"protein_id": "ENSP00000597981.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927922.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3358G>T",
"hgvs_p": "p.Ala1120Ser",
"transcript": "ENST00000927923.1",
"protein_id": "ENSP00000597982.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1195,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927923.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3337G>T",
"hgvs_p": "p.Ala1113Ser",
"transcript": "ENST00000865171.1",
"protein_id": "ENSP00000535230.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865171.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3334G>T",
"hgvs_p": "p.Ala1112Ser",
"transcript": "ENST00000927920.1",
"protein_id": "ENSP00000597979.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.1965G>T",
"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": null,
"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.3534G>T",
"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": null,
"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.*99G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553314.1"
}
],
"gene_symbol": "TIMELESS",
"gene_hgnc_id": 11813,
"dbsnp": "rs148897503",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3702853322029114,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.0886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.365,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003920.5",
"gene_symbol": "TIMELESS",
"hgnc_id": 11813,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3397G>T",
"hgvs_p": "p.Ala1133Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}