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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: 22-50525872-GCCGCTGAGCGCGGGGCCGTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50525872&ref=GCCGCTGAGCGCGGGGCCGTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "TYMP",
"hgnc_id": 3148,
"hgvs_c": "c.1342_1361delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp448fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001257989.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SCO2",
"hgnc_id": 10604,
"hgvs_c": "c.-14+354_-14+373delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001169109.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PP5_Very_Strong",
"acmg_score": 12,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Mitochondrial DNA depletion syndrome 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001953.5",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252029.8",
"protein_coding": true,
"protein_id": "NP_001944.1",
"strand": false,
"transcript": "NM_001953.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000252029.8",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001953.5",
"protein_coding": true,
"protein_id": "ENSP00000252029.3",
"strand": false,
"transcript": "ENST00000252029.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": "DGPALSG",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1342,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000395681.6",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1342_1361delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp448fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379038.1",
"strand": false,
"transcript": "ENST00000395681.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000395678.7",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379036.3",
"strand": false,
"transcript": "ENST00000395678.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000395680.6",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379037.1",
"strand": false,
"transcript": "ENST00000395680.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000487577.5",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498844.1",
"strand": false,
"transcript": "ENST00000487577.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": "DGPALSG",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1498,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970788.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1498_1517delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp500fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640847.1",
"strand": false,
"transcript": "ENST00000970788.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": "DGPALSG",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1498,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970790.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1498_1517delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp500fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640849.1",
"strand": false,
"transcript": "ENST00000970790.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": "DGPALSG",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1390,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893028.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1390_1409delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp464fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563087.1",
"strand": false,
"transcript": "ENST00000893028.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": "DGPALSG",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1375,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893024.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1375_1394delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp459fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563083.1",
"strand": false,
"transcript": "ENST00000893024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": "DGPALSG",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1375,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893026.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1375_1394delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp459fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563085.1",
"strand": false,
"transcript": "ENST00000893026.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": "DGPALSG",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1345,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893016.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1345_1364delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp449fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563075.1",
"strand": false,
"transcript": "ENST00000893016.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": "DGPALSG",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1342,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001257989.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1342_1361delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp448fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244918.1",
"strand": false,
"transcript": "NM_001257989.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": "DGPALSG",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1342,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893021.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1342_1361delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp448fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563080.1",
"strand": false,
"transcript": "ENST00000893021.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": "DGPALSG",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1342,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893022.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1342_1361delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp448fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563081.1",
"strand": false,
"transcript": "ENST00000893022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": "DGPALSG",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1339,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893030.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1339_1358delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp447fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563089.1",
"strand": false,
"transcript": "ENST00000893030.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 483,
"aa_ref": "DGPALSG",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1330,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893023.1",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1330_1349delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp444fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563082.1",
"strand": false,
"transcript": "ENST00000893023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001113755.3",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107227.1",
"strand": false,
"transcript": "NM_001113755.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001113756.3",
"gene_hgnc_id": 3148,
"gene_symbol": "TYMP",
"hgvs_c": "c.1327_1346delGACGGCCCCGCGCTCAGCGG",
"hgvs_p": "p.Asp443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107228.1",
"strand": false,
"transcript": "NM_001113756.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "DGPALSG",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1327,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001257988.1",
"gene_hgnc_id": 3148,
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