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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: 16-28477542-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28477542&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLN3",
"hgnc_id": 2074,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.His431Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000086.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000261832",
"hgnc_id": null,
"hgvs_c": "c.228+4563C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000637378.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.57,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Neuronal ceroid lipofuscinosis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9648334980010986,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "H",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001042432.2",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.His431Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000636147.2",
"protein_coding": true,
"protein_id": "NP_001035897.1",
"strand": false,
"transcript": "NM_001042432.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "H",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000636147.2",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.His431Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042432.2",
"protein_coding": true,
"protein_id": "ENSP00000490105.1",
"strand": false,
"transcript": "ENST00000636147.2",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "H",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000359984.12",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.His431Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353073.9",
"strand": false,
"transcript": "ENST00000359984.12",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 421,
"aa_ref": "H",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000565316.6",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.His414Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456117.1",
"strand": false,
"transcript": "ENST00000565316.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 390,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000355477.10",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.His383Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347660.7",
"strand": false,
"transcript": "ENST00000355477.10",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 339,
"aa_ref": "H",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1020,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000357806.11",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.994C>T",
"hgvs_p": "p.His332Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350457.7",
"strand": false,
"transcript": "ENST00000357806.11",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 336,
"aa_ref": "H",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1011,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000636228.1",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.985C>T",
"hgvs_p": "p.His329Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489627.1",
"strand": false,
"transcript": "ENST00000636228.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 369,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": null,
"cds_end": null,
"cds_length": 1112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637378.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261832",
"hgvs_c": "c.228+4563C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490831.1",
"strand": false,
"transcript": "ENST00000637378.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000566057.5",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "n.*587C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456693.1",
"strand": false,
"transcript": "ENST00000566057.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000568224.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261832",
"hgvs_c": "n.1057C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454253.1",
"strand": false,
"transcript": "ENST00000568224.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000566057.5",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "n.*587C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456693.1",
"strand": false,
"transcript": "ENST00000566057.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "H",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_000086.2",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.His431Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000077.1",
"strand": false,
"transcript": "NM_000086.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "H",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5765,
"cdna_start": 3619,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000569430.7",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.His431Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454229.1",
"strand": false,
"transcript": "ENST00000569430.7",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 437,
"aa_ref": "H",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000940182.1",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.His430Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610241.1",
"strand": false,
"transcript": "ENST00000940182.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 416,
"aa_ref": "H",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000892258.1",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.His409Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562317.1",
"strand": false,
"transcript": "ENST00000892258.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 414,
"aa_ref": "H",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001286104.2",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.His407Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273033.1",
"strand": false,
"transcript": "NM_001286104.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 414,
"aa_ref": "H",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000333496.14",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.His407Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329171.9",
"strand": false,
"transcript": "ENST00000333496.14",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 414,
"aa_ref": "H",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000360019.8",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.His407Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353116.3",
"strand": false,
"transcript": "ENST00000360019.8",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 384,
"aa_ref": "H",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001286110.2",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.His377Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273039.1",
"strand": false,
"transcript": "NM_001286110.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 384,
"aa_ref": "H",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000357857.14",
"gene_hgnc_id": 2074,
"gene_symbol": "CLN3",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.His377Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350523.9",
"strand": false,
"transcript": "ENST00000357857.14",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 384,
"aa_ref": "H",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
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