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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: 17-44313119-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44313119&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44313119,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001144825.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "NM_001144825.2",
"protein_id": "NP_001138297.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 446,
"cds_start": 239,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": "ENST00000426726.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "ENST00000426726.8",
"protein_id": "ENSP00000410862.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 446,
"cds_start": 239,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": "NM_001144825.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "ENST00000225441.11",
"protein_id": "ENSP00000225441.7",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 405,
"cds_start": 239,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.224G>T",
"hgvs_p": "p.Gly75Val",
"transcript": "ENST00000590941.5",
"protein_id": "ENSP00000468214.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 400,
"cds_start": 224,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "NM_006695.5",
"protein_id": "NP_006686.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 405,
"cds_start": 239,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "XM_017024035.2",
"protein_id": "XP_016879524.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 474,
"cds_start": 239,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Gly76Val",
"transcript": "XM_017024036.3",
"protein_id": "XP_016879525.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 470,
"cds_start": 227,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Gly76Val",
"transcript": "XM_024450548.2",
"protein_id": "XP_024306316.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 442,
"cds_start": 227,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "XM_017024038.3",
"protein_id": "XP_016879527.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 434,
"cds_start": 239,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val",
"transcript": "XM_017024039.2",
"protein_id": "XP_016879528.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 433,
"cds_start": 239,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Gly76Val",
"transcript": "XM_017024040.3",
"protein_id": "XP_016879529.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 401,
"cds_start": 227,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.224G>T",
"hgvs_p": "p.Gly75Val",
"transcript": "NM_001144826.2",
"protein_id": "NP_001138298.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 400,
"cds_start": 224,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.224G>T",
"hgvs_p": "p.Gly75Val",
"transcript": "XM_017024037.2",
"protein_id": "XP_016879526.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 469,
"cds_start": 224,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "c.224G>T",
"hgvs_p": "p.Gly75Val",
"transcript": "XM_005256964.4",
"protein_id": "XP_005257021.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 441,
"cds_start": 224,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1990,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "n.927G>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"hgvs_c": "n.659G>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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A-AS1",
"gene_hgnc_id": 51344,
"hgvs_c": "n.155-1664C>A",
"hgvs_p": null,
"transcript": "ENST00000588097.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A-AS1",
"gene_hgnc_id": 51344,
"hgvs_c": "n.59-1664C>A",
"hgvs_p": null,
"transcript": "ENST00000753094.1",
"protein_id": null,
"transcript_support_level": null,
"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": 884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A-AS1",
"gene_hgnc_id": 51344,
"hgvs_c": "n.80-1664C>A",
"hgvs_p": null,
"transcript": "ENST00000753095.1",
"protein_id": null,
"transcript_support_level": null,
"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": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUNDC3A-AS1",
"gene_hgnc_id": 51344,
"hgvs_c": "n.318-1664C>A",
"hgvs_p": null,
"transcript": "ENST00000753096.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RUNDC3A",
"gene_hgnc_id": 16984,
"dbsnp": "rs373613588",
"frequency_reference_population": 0.000033458906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.000035576,
"gnomad_genomes_af": 0.0000131354,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8066405057907104,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1598,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.506,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001144825.2",
"gene_symbol": "RUNDC3A",
"hgnc_id": 16984,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Gly80Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000753094.1",
"gene_symbol": "RUNDC3A-AS1",
"hgnc_id": 51344,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.59-1664C>A",
"hgvs_p": null
}
],
"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
}