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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: 21-32631077-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32631077&ref=G&alt=A&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": "SYNJ1",
"hgnc_id": 11503,
"hgvs_c": "c.4757C>T",
"hgvs_p": "p.Pro1586Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_003895.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 984,
"alphamissense_prediction": null,
"alphamissense_score": 0.0727,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 53,Developmental and epileptic encephalopathy,Early-onset Parkinson disease 20,Inborn genetic diseases,SYNJ1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006534188985824585,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1526,
"aa_ref": "P",
"aa_start": 1500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 4606,
"cds_end": null,
"cds_length": 4581,
"cds_start": 4499,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000630077.3",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4499C>T",
"hgvs_p": "p.Pro1500Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487560.1",
"strand": false,
"transcript": "ENST00000630077.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": null,
"cds_end": null,
"cds_length": 3936,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_203446.3",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.*728C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674351.1",
"protein_coding": true,
"protein_id": "NP_982271.3",
"strand": false,
"transcript": "NM_203446.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": null,
"cds_end": null,
"cds_length": 3936,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000674351.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.*728C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203446.3",
"protein_coding": true,
"protein_id": "ENSP00000501530.1",
"strand": false,
"transcript": "ENST00000674351.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1612,
"aa_ref": "P",
"aa_start": 1586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7425,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 4839,
"cds_start": 4757,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_003895.4",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4757C>T",
"hgvs_p": "p.Pro1586Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003886.3",
"strand": false,
"transcript": "NM_003895.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "P",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7044,
"cdna_start": 4730,
"cds_end": null,
"cds_length": 4722,
"cds_start": 4640,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000674308.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4640C>T",
"hgvs_p": "p.Pro1547Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501426.1",
"strand": false,
"transcript": "ENST00000674308.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1526,
"aa_ref": "P",
"aa_start": 1500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 4606,
"cds_end": null,
"cds_length": 4581,
"cds_start": 4499,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001160306.2",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4499C>T",
"hgvs_p": "p.Pro1500Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153778.1",
"strand": false,
"transcript": "NM_001160306.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "P",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7060,
"cdna_start": 4742,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4742,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017028495.3",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4742C>T",
"hgvs_p": "p.Pro1581Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883984.1",
"strand": false,
"transcript": "XM_017028495.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "P",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7036,
"cdna_start": 4718,
"cds_end": null,
"cds_length": 4800,
"cds_start": 4718,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047441034.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4718C>T",
"hgvs_p": "p.Pro1573Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296990.1",
"strand": false,
"transcript": "XM_047441034.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "P",
"aa_start": 1570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7027,
"cdna_start": 4709,
"cds_end": null,
"cds_length": 4791,
"cds_start": 4709,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017028497.3",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4709C>T",
"hgvs_p": "p.Pro1570Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883986.1",
"strand": false,
"transcript": "XM_017028497.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "P",
"aa_start": 1560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6997,
"cdna_start": 4679,
"cds_end": null,
"cds_length": 4761,
"cds_start": 4679,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047441035.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4679C>T",
"hgvs_p": "p.Pro1560Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296991.1",
"strand": false,
"transcript": "XM_047441035.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "P",
"aa_start": 1552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6973,
"cdna_start": 4655,
"cds_end": null,
"cds_length": 4737,
"cds_start": 4655,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047441036.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4655C>T",
"hgvs_p": "p.Pro1552Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296992.1",
"strand": false,
"transcript": "XM_047441036.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "P",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6958,
"cdna_start": 4640,
"cds_end": null,
"cds_length": 4722,
"cds_start": 4640,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047441037.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4640C>T",
"hgvs_p": "p.Pro1547Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296993.1",
"strand": false,
"transcript": "XM_047441037.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "P",
"aa_start": 1539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6934,
"cdna_start": 4616,
"cds_end": null,
"cds_length": 4698,
"cds_start": 4616,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017028499.3",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4616C>T",
"hgvs_p": "p.Pro1539Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883988.1",
"strand": false,
"transcript": "XM_017028499.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "P",
"aa_start": 1536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 4607,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4607,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047441038.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4607C>T",
"hgvs_p": "p.Pro1536Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296994.1",
"strand": false,
"transcript": "XM_047441038.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "P",
"aa_start": 1513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 4663,
"cds_end": null,
"cds_length": 4620,
"cds_start": 4538,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047441039.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4538C>T",
"hgvs_p": "p.Pro1513Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296995.1",
"strand": false,
"transcript": "XM_047441039.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "P",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6966,
"cdna_start": 4648,
"cds_end": null,
"cds_length": 4605,
"cds_start": 4523,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047441040.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4523C>T",
"hgvs_p": "p.Pro1508Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296996.1",
"strand": false,
"transcript": "XM_047441040.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "P",
"aa_start": 1382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6556,
"cdna_start": 4238,
"cds_end": null,
"cds_length": 4227,
"cds_start": 4145,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047441041.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.4145C>T",
"hgvs_p": "p.Pro1382Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296997.1",
"strand": false,
"transcript": "XM_047441041.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7085,
"cdna_start": null,
"cds_end": null,
"cds_length": 3936,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000674204.1",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.*728C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501504.1",
"strand": false,
"transcript": "ENST00000674204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7037,
"cdna_start": null,
"cds_end": null,
"cds_length": 3888,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001160302.2",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.*728C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153774.1",
"strand": false,
"transcript": "NM_001160302.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7055,
"cdna_start": null,
"cds_end": null,
"cds_length": 3888,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000357345.8",
"gene_hgnc_id": 11503,
"gene_symbol": "SYNJ1",
"hgvs_c": "c.*728C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349903.3",
"strand": false,
"transcript": "ENST00000357345.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1282,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7050,
"cdna_start": null,
"cds_end": null,
"cds_length": 3849,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
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