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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: 17-44315254-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44315254&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RUNDC3A",
"hgnc_id": 16984,
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001144825.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RUNDC3A-AS1",
"hgnc_id": 51344,
"hgvs_c": "n.62A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000753095.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1607,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2685050368309021,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 446,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1341,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001144825.2",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426726.8",
"protein_coding": true,
"protein_id": "NP_001138297.1",
"strand": true,
"transcript": "NM_001144825.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 446,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1341,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000426726.8",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144825.2",
"protein_coding": true,
"protein_id": "ENSP00000410862.2",
"strand": true,
"transcript": "ENST00000426726.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 405,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1218,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000225441.11",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000225441.7",
"strand": true,
"transcript": "ENST00000225441.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1203,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000590941.5",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468214.1",
"strand": true,
"transcript": "ENST00000590941.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 475,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1428,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906572.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576631.1",
"strand": true,
"transcript": "ENST00000906572.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 470,
"aa_ref": "D",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1413,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906573.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.717T>A",
"hgvs_p": "p.Asp239Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576632.1",
"strand": true,
"transcript": "ENST00000906573.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 470,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1413,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951039.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621098.1",
"strand": true,
"transcript": "ENST00000951039.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 469,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1410,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906570.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576629.1",
"strand": true,
"transcript": "ENST00000906570.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 444,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1335,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906571.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576630.1",
"strand": true,
"transcript": "ENST00000906571.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1329,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906569.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.717T>A",
"hgvs_p": "p.Asp239Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576628.1",
"strand": true,
"transcript": "ENST00000906569.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 441,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1326,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906568.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576627.1",
"strand": true,
"transcript": "ENST00000906568.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 439,
"aa_ref": "D",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1320,
"cds_start": 708,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951040.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.708T>A",
"hgvs_p": "p.Asp236Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621099.1",
"strand": true,
"transcript": "ENST00000951040.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 439,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1320,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951041.1",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621100.1",
"strand": true,
"transcript": "ENST00000951041.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 405,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1218,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_006695.5",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006686.1",
"strand": true,
"transcript": "NM_006695.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1203,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001144826.2",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138298.1",
"strand": true,
"transcript": "NM_001144826.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1425,
"cds_start": 729,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017024035.2",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.729T>A",
"hgvs_p": "p.Asp243Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879524.1",
"strand": true,
"transcript": "XM_017024035.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 470,
"aa_ref": "D",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1413,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017024036.3",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.717T>A",
"hgvs_p": "p.Asp239Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879525.1",
"strand": true,
"transcript": "XM_017024036.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 469,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1410,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017024037.2",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879526.1",
"strand": true,
"transcript": "XM_017024037.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1329,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024450548.2",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.717T>A",
"hgvs_p": "p.Asp239Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306316.1",
"strand": true,
"transcript": "XM_024450548.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 441,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1326,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005256964.4",
"gene_hgnc_id": 16984,
"gene_symbol": "RUNDC3A",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257021.1",
"strand": true,
"transcript": "XM_005256964.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 434,
"aa_ref": "D",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1305,
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