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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: 11-47573229-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47573229&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KBTBD4",
"hgnc_id": 23761,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Ala469Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001318716.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "PTPMT1",
"hgnc_id": 26965,
"hgvs_c": "c.*1600C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_175732.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NDUFS3",
"hgnc_id": 7710,
"hgvs_c": "n.815+1486C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000533507.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.2445,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6835927963256836,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_018095.6",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Ala436Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000430070.7",
"protein_coding": true,
"protein_id": "NP_060565.4",
"strand": false,
"transcript": "NM_018095.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000430070.7",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Ala436Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018095.6",
"protein_coding": true,
"protein_id": "ENSP00000415106.2",
"strand": false,
"transcript": "ENST00000430070.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533290.5",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436713.1",
"strand": false,
"transcript": "ENST00000533290.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_175732.3",
"gene_hgnc_id": 26965,
"gene_symbol": "PTPMT1",
"hgvs_c": "c.*1600C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326674.10",
"protein_coding": true,
"protein_id": "NP_783859.1",
"strand": true,
"transcript": "NM_175732.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000326674.10",
"gene_hgnc_id": 26965,
"gene_symbol": "PTPMT1",
"hgvs_c": "c.*1600C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175732.3",
"protein_coding": true,
"protein_id": "ENSP00000325958.9",
"strand": true,
"transcript": "ENST00000326674.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527079.2",
"gene_hgnc_id": 26965,
"gene_symbol": "PTPMT1",
"hgvs_c": "n.2040C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527079.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 567,
"aa_ref": "A",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318716.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Ala469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305645.1",
"strand": false,
"transcript": "NM_001318716.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "A",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1375,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318717.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Ala459Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305646.1",
"strand": false,
"transcript": "NM_001318717.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318718.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305647.1",
"strand": false,
"transcript": "NM_001318718.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318719.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305648.1",
"strand": false,
"transcript": "NM_001318719.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318720.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Ala443Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305649.1",
"strand": false,
"transcript": "NM_001318720.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318721.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305650.1",
"strand": false,
"transcript": "NM_001318721.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318722.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305651.1",
"strand": false,
"transcript": "NM_001318722.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318723.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305652.1",
"strand": false,
"transcript": "NM_001318723.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318724.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305653.1",
"strand": false,
"transcript": "NM_001318724.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318725.2",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305654.1",
"strand": false,
"transcript": "NM_001318725.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016506.7",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057590.3",
"strand": false,
"transcript": "NM_016506.7",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395288.6",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378703.2",
"strand": false,
"transcript": "ENST00000395288.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526005.5",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433340.1",
"strand": false,
"transcript": "ENST00000526005.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 383,
"aa_ref": "A",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1152,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962990.1",
"gene_hgnc_id": 23761,
"gene_symbol": "KBTBD4",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633049.1",
"strand": false,
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