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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: 21-32727978-GCAGCCGCCGCCA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32727978&ref=GCAGCCGCCGCCA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32727978,
"ref": "GCAGCCGCCGCCA",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000674351.1",
"consequences": [
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "ENST00000433931.7",
"protein_id": "ENSP00000409667.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1612,
"cds_start": 51,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "ENST00000382499.7",
"protein_id": "ENSP00000371939.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1350,
"cds_start": 51,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.-67_-56delTGGCGGCGGCTG",
"hgvs_p": null,
"transcript": "NM_203446.3",
"protein_id": "NP_982271.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": "ENST00000674351.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.-67_-56delTGGCGGCGGCTG",
"hgvs_p": null,
"transcript": "ENST00000674351.1",
"protein_id": "ENSP00000501530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": "NM_203446.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "NM_003895.4",
"protein_id": "NP_003886.3",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1612,
"cds_start": 51,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_017028495.3",
"protein_id": "XP_016883984.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1607,
"cds_start": 51,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 7060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441034.1",
"protein_id": "XP_047296990.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1599,
"cds_start": 51,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_017028497.3",
"protein_id": "XP_016883986.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1596,
"cds_start": 51,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441035.1",
"protein_id": "XP_047296991.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1586,
"cds_start": 51,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 6997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441036.1",
"protein_id": "XP_047296992.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1578,
"cds_start": 51,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441037.1",
"protein_id": "XP_047296993.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1573,
"cds_start": 51,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 6958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_017028499.3",
"protein_id": "XP_016883988.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1565,
"cds_start": 51,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441038.1",
"protein_id": "XP_047296994.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1562,
"cds_start": 51,
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"cdna_start": 62,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441042.1",
"protein_id": "XP_047296998.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1353,
"cds_start": 51,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441043.1",
"protein_id": "XP_047296999.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
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"cds_start": 51,
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"cdna_start": 62,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441044.1",
"protein_id": "XP_047297000.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1337,
"cds_start": 51,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 62,
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"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441045.1",
"protein_id": "XP_047297001.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1334,
"cds_start": 51,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441046.1",
"protein_id": "XP_047297002.1",
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"aa_end": null,
"aa_length": 1318,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441047.1",
"protein_id": "XP_047297003.1",
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"aa_start": 17,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "CGGGC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.51_62delTGGCGGCGGCTG",
"hgvs_p": "p.Gly18_Cys21del",
"transcript": "XM_047441048.1",
"protein_id": "XP_047297004.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1303,
"cds_start": 51,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.-67_-56delTGGCGGCGGCTG",
"hgvs_p": null,
"transcript": "ENST00000674308.1",
"protein_id": "ENSP00000501426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1573,
"cds_start": -4,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.-67_-56delTGGCGGCGGCTG",
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"gene_symbol": "PAXBP1-AS1",
"hgnc_id": 39603,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-160_-149delCAGCCGCCGCCA",
"hgvs_p": null
}
],
"clinvar_disease": " 53,Developmental and epileptic encephalopathy,Early-onset Parkinson disease 20,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Developmental and epileptic encephalopathy, 53;Early-onset Parkinson disease 20|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}