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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: 11-78104013-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78104013&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALG8",
"hgnc_id": 23161,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Ile470Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001425224.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 42707,
"alphamissense_prediction": null,
"alphamissense_score": 0.1843,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "ALG8 congenital disorder of glycosylation,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007918030023574829,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_024079.5",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Ile439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299626.10",
"protein_coding": true,
"protein_id": "NP_076984.2",
"strand": false,
"transcript": "NM_024079.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000299626.10",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Ile439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024079.5",
"protein_coding": true,
"protein_id": "ENSP00000299626.5",
"strand": false,
"transcript": "ENST00000299626.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 560,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000679559.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Ile439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505433.1",
"strand": false,
"transcript": "ENST00000679559.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "I",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001425224.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Ile470Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412153.1",
"strand": false,
"transcript": "NM_001425224.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "I",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001425225.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Ile455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412154.1",
"strand": false,
"transcript": "NM_001425225.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 542,
"aa_ref": "I",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000532440.6",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Ile455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433429.2",
"strand": false,
"transcript": "ENST00000532440.6",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001425222.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Ile439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412151.1",
"strand": false,
"transcript": "NM_001425222.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 533,
"aa_ref": "I",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853774.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Ile446Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523833.1",
"strand": false,
"transcript": "ENST00000853774.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001425219.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412148.1",
"strand": false,
"transcript": "NM_001425219.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680256.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505074.1",
"strand": false,
"transcript": "ENST00000680256.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 524,
"aa_ref": "I",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001425223.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1310T>C",
"hgvs_p": "p.Ile437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412152.1",
"strand": false,
"transcript": "NM_001425223.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001425220.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1301T>C",
"hgvs_p": "p.Ile434Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412149.1",
"strand": false,
"transcript": "NM_001425220.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853769.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1301T>C",
"hgvs_p": "p.Ile434Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523828.1",
"strand": false,
"transcript": "ENST00000853769.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "I",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001425221.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412150.1",
"strand": false,
"transcript": "NM_001425221.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "I",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853773.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523832.1",
"strand": false,
"transcript": "ENST00000853773.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "I",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000526849.6",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1220T>C",
"hgvs_p": "p.Ile407Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434388.2",
"strand": false,
"transcript": "ENST00000526849.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 494,
"aa_ref": "I",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000680398.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1316T>C",
"hgvs_p": "p.Ile439Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506189.1",
"strand": false,
"transcript": "ENST00000680398.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853770.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Ile391Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523829.1",
"strand": false,
"transcript": "ENST00000853770.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "I",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853772.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Ile389Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523831.1",
"strand": false,
"transcript": "ENST00000853772.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1163,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001425226.1",
"gene_hgnc_id": 23161,
"gene_symbol": "ALG8",
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Ile388Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412155.1",
"strand": false,
"transcript": "NM_001425226.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "I",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1145,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
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