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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: 15-89307643-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89307643&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89307643,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001113378.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3700,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113378.2"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3700,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310775.12"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3626,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674831.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3650_3651delGT",
"hgvs_p": "p.Cys1217fs",
"transcript": "ENST00000940814.1",
"protein_id": "ENSP00000610873.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3650,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940814.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376911.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3802,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696719.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000886451.1",
"protein_id": "ENSP00000556509.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3715,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886451.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000886459.1",
"protein_id": "ENSP00000556518.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886459.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000886461.1",
"protein_id": "ENSP00000556520.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886461.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000886463.1",
"protein_id": "ENSP00000556522.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 4300,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886463.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940788.1",
"protein_id": "ENSP00000610847.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3719,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940788.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940789.1",
"protein_id": "ENSP00000610848.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940789.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940790.1",
"protein_id": "ENSP00000610849.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940790.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940794.1",
"protein_id": "ENSP00000610853.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3820,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940794.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940795.1",
"protein_id": "ENSP00000610854.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3836,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940795.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940796.1",
"protein_id": "ENSP00000610855.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940796.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940798.1",
"protein_id": "ENSP00000610857.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3808,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940798.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940799.1",
"protein_id": "ENSP00000610858.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940799.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940805.1",
"protein_id": "ENSP00000610864.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940805.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940809.1",
"protein_id": "ENSP00000610868.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3808,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940809.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3626_3627delGT",
"hgvs_p": "p.Cys1209fs",
"transcript": "ENST00000940817.1",
"protein_id": "ENSP00000610876.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3798,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940817.1"
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"PP5_Very_Strong"
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"verdict": "Pathogenic",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 10,
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],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group I",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group I",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}