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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: 5-69509196-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69509196&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69509196,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_002538.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "NM_001205254.2",
"protein_id": "NP_001192183.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396442.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205254.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000396442.7",
"protein_id": "ENSP00000379719.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001205254.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396442.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000355237.6",
"protein_id": "ENSP00000347379.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355237.6"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.-24-4752C>T",
"hgvs_p": null,
"transcript": "ENST00000538151.2",
"protein_id": "ENSP00000445940.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": null,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538151.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "NM_001438604.1",
"protein_id": "NP_001425533.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438604.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "NM_002538.4",
"protein_id": "NP_002529.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002538.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000680027.1",
"protein_id": "ENSP00000506162.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680027.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000681041.1",
"protein_id": "ENSP00000505426.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681041.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000681586.1",
"protein_id": "ENSP00000505541.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681586.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000901828.1",
"protein_id": "ENSP00000571887.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901828.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000901833.1",
"protein_id": "ENSP00000571892.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901833.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000901834.1",
"protein_id": "ENSP00000571893.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901834.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000935162.1",
"protein_id": "ENSP00000605221.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935162.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000935163.1",
"protein_id": "ENSP00000605222.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935163.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000955763.1",
"protein_id": "ENSP00000625822.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955763.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000955766.1",
"protein_id": "ENSP00000625825.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955766.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000955767.1",
"protein_id": "ENSP00000625826.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 522,
"cds_start": 106,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955767.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000901830.1",
"protein_id": "ENSP00000571889.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 508,
"cds_start": 106,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901830.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000955764.1",
"protein_id": "ENSP00000625823.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 508,
"cds_start": 106,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955764.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000901827.1",
"protein_id": "ENSP00000571886.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 504,
"cds_start": 106,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901827.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000901829.1",
"protein_id": "ENSP00000571888.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 504,
"cds_start": 106,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901829.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36*",
"transcript": "ENST00000935161.1",
"protein_id": "ENSP00000605220.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 504,
"cds_start": 106,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935161.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
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{
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"verdict": "Pathogenic",
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],
"clinvar_disease": "OCLN-related disorder,Pseudo-TORCH syndrome 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Pseudo-TORCH syndrome 1|OCLN-related disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}