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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: 16-7333052-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7333052&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 7333052,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_145893.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_145893.3",
"protein_id": "NP_665900.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 395,
"cds_start": 51,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "ENST00000355637.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "ENST00000355637.9",
"protein_id": "ENSP00000347855.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 395,
"cds_start": 51,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "NM_145893.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "ENST00000311745.9",
"protein_id": "ENSP00000309117.5",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 418,
"cds_start": 51,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "ENST00000436368.6",
"protein_id": "ENSP00000402745.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 392,
"cds_start": 51,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.28-185095T>C",
"hgvs_p": null,
"transcript": "NM_018723.4",
"protein_id": "NP_061193.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "ENST00000550418.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.28-185095T>C",
"hgvs_p": null,
"transcript": "ENST00000550418.6",
"protein_id": "ENSP00000450031.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "NM_018723.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.28-185095T>C",
"hgvs_p": null,
"transcript": "ENST00000553186.5",
"protein_id": "ENSP00000447753.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.28-185095T>C",
"hgvs_p": null,
"transcript": "ENST00000551752.5",
"protein_id": "ENSP00000447281.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.28-185095T>C",
"hgvs_p": null,
"transcript": "ENST00000547605.5",
"protein_id": "ENSP00000450402.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_145891.3",
"protein_id": "NP_665898.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 418,
"cds_start": 51,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_001415896.1",
"protein_id": "NP_001402825.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 417,
"cds_start": 51,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_001415904.1",
"protein_id": "NP_001402833.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 394,
"cds_start": 51,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_145892.3",
"protein_id": "NP_665899.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 392,
"cds_start": 51,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_001415906.1",
"protein_id": "NP_001402835.1",
"transcript_support_level": null,
"aa_start": 17,
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"cds_start": 51,
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"cdna_start": 208,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.6T>C",
"hgvs_p": "p.Ile2Ile",
"transcript": "ENST00000620507.4",
"protein_id": "ENSP00000484837.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 375,
"cds_start": 6,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 303,
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"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "NM_001415915.1",
"protein_id": "NP_001402844.1",
"transcript_support_level": null,
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"cds_start": 51,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "XM_005255387.5",
"protein_id": "XP_005255444.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
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"cds_start": 51,
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"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Ile17Ile",
"transcript": "XM_024450306.2",
"protein_id": "XP_024306074.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 413,
"cds_start": 51,
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"cdna_start": 208,
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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": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.505-185095T>C",
"hgvs_p": null,
"transcript": "ENST00000641259.1",
"protein_id": "ENSP00000493041.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.625-185095T>C",
"hgvs_p": null,
"transcript": "NM_001415887.1",
"protein_id": "NP_001402816.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.625-185095T>C",
"hgvs_p": null,
"transcript": "NM_001415888.1",
"protein_id": "NP_001402817.1",
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.157-185095T>C",
"hgvs_p": null,
"transcript": "NM_001411047.1",
"protein_id": "NP_001397976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
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"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.157-185095T>C",
"hgvs_p": null,
"transcript": "ENST00000547372.5",
"protein_id": "ENSP00000446842.1",
"transcript_support_level": 5,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Idiopathic generalized epilepsy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}