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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: X-136149229-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136149229&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136149229,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001159702.3",
"consequences": [
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+1601T>C",
"hgvs_p": null,
"transcript": "NM_001159702.3",
"protein_id": "NP_001153174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "ENST00000394155.8",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+1601T>C",
"hgvs_p": null,
"transcript": "ENST00000394155.8",
"protein_id": "ENSP00000377710.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "NM_001159702.3",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+1351T>C",
"hgvs_p": null,
"transcript": "NM_001369326.1",
"protein_id": "NP_001356255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2699,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+1083T>C",
"hgvs_p": null,
"transcript": "NM_001369327.2",
"protein_id": "NP_001356256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2536,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-243+1351T>C",
"hgvs_p": null,
"transcript": "ENST00000651089.1",
"protein_id": "ENSP00000498684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2801,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+492T>C",
"hgvs_p": null,
"transcript": "NM_001159700.2",
"protein_id": "NP_001153172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2451,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+1351T>C",
"hgvs_p": null,
"transcript": "NM_001369329.1",
"protein_id": "NP_001356258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
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"cds_length": 843,
"cdna_start": null,
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"cdna_length": 2499,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+739T>C",
"hgvs_p": null,
"transcript": "NM_001369330.1",
"protein_id": "NP_001356259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2298,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+1601T>C",
"hgvs_p": null,
"transcript": "NM_001449.5",
"protein_id": "NP_001440.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2368,
"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,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "FHL1",
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"hgvs_c": "c.-101+2217T>C",
"hgvs_p": null,
"transcript": "ENST00000629039.2",
"protein_id": "ENSP00000486439.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 280,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.-101+492T>C",
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"transcript": "ENST00000630084.2",
"protein_id": "ENSP00000485897.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "FHL1",
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},
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],
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"gene_symbol": "FHL1",
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],
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},
{
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],
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},
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"transcript": "ENST00000458357.5",
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},
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],
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"gene_symbol": "FHL1",
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"hgvs_c": "c.-27+1601T>C",
"hgvs_p": null,
"transcript": "ENST00000627578.2",
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],
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"hgvs_c": "c.-101+966T>C",
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],
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],
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"intron_rank": 1,
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"hgvs_c": "n.311+2217T>C",
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"transcript": "NR_027621.2",
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"feature": null
},
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"consequences": [
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],
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "FHL1",
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"hgvs_c": "c.-101+739T>C",
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},
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{
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{
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],
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"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": null,
"splice_source_selected": null,
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "NM_001159702.3",
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"effects": [
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"inheritance_mode": "XL",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}