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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: 17-44316386-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44316386&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44316386,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001144825.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "NM_001144825.2",
"protein_id": "NP_001138297.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 446,
"cds_start": 955,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": "ENST00000426726.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000426726.8",
"protein_id": "ENSP00000410862.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 446,
"cds_start": 955,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": "NM_001144825.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000225441.11",
"protein_id": "ENSP00000225441.7",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 405,
"cds_start": 955,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.940A>T",
"hgvs_p": "p.Thr314Ser",
"transcript": "ENST00000590941.5",
"protein_id": "ENSP00000468214.1",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 400,
"cds_start": 940,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "NM_006695.5",
"protein_id": "NP_006686.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 405,
"cds_start": 955,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.940A>T",
"hgvs_p": "p.Thr314Ser",
"transcript": "NM_001144826.2",
"protein_id": "NP_001138298.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 400,
"cds_start": 940,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "XM_017024035.2",
"protein_id": "XP_016879524.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 474,
"cds_start": 955,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.943A>T",
"hgvs_p": "p.Thr315Ser",
"transcript": "XM_017024036.3",
"protein_id": "XP_016879525.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 470,
"cds_start": 943,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.940A>T",
"hgvs_p": "p.Thr314Ser",
"transcript": "XM_017024037.2",
"protein_id": "XP_016879526.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 469,
"cds_start": 940,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.943A>T",
"hgvs_p": "p.Thr315Ser",
"transcript": "XM_024450548.2",
"protein_id": "XP_024306316.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 442,
"cds_start": 943,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.940A>T",
"hgvs_p": "p.Thr314Ser",
"transcript": "XM_005256964.4",
"protein_id": "XP_005257021.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 441,
"cds_start": 940,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "XM_017024038.3",
"protein_id": "XP_016879527.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 434,
"cds_start": 955,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser",
"transcript": "XM_017024039.2",
"protein_id": "XP_016879528.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 433,
"cds_start": 955,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.943A>T",
"hgvs_p": "p.Thr315Ser",
"transcript": "XM_017024040.3",
"protein_id": "XP_016879529.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 401,
"cds_start": 943,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "n.1375A>T",
"hgvs_p": null,
"transcript": "ENST00000590834.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "n.2873-4A>T",
"hgvs_p": null,
"transcript": "ENST00000587483.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "n.-169A>T",
"hgvs_p": null,
"transcript": "ENST00000588564.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"dbsnp": "rs1254054070",
"frequency_reference_population": 0.000006586227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658623,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18509626388549805,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7559999823570251,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.2411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.169,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.808177144222954,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001144825.2",
"gene_symbol": "RUNDC3A",
"hgnc_id": 16984,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.955A>T",
"hgvs_p": "p.Thr319Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}