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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: 9-16512750-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=16512750&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 16512750,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000380672.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.669+39780T>C",
"hgvs_p": null,
"transcript": "NM_017637.6",
"protein_id": "NP_060107.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12808,
"mane_select": "ENST00000380672.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.669+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000380672.9",
"protein_id": "ENSP00000370047.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12808,
"mane_select": "NM_017637.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.147+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000545497.5",
"protein_id": "ENSP00000444640.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.435+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000603713.5",
"protein_id": "ENSP00000474045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.468+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000380667.6",
"protein_id": "ENSP00000370042.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1032,
"cds_start": -4,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.339+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000700553.1",
"protein_id": "ENSP00000515060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.384+39780T>C",
"hgvs_p": null,
"transcript": "NM_001317940.2",
"protein_id": "NP_001304869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
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"cds_length": 3015,
"cdna_start": null,
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"cdna_length": 12588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.543+39780T>C",
"hgvs_p": null,
"transcript": "NM_001317939.2",
"protein_id": "NP_001304868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 861,
"cds_start": -4,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.540+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000418777.5",
"protein_id": "ENSP00000408370.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": -4,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
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"cdna_length": 3673,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "BNC2",
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"hgvs_c": "c.435+39780T>C",
"hgvs_p": null,
"transcript": "ENST00000380666.6",
"protein_id": "ENSP00000370041.3",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "n.669+39780T>C",
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"transcript": "ENST00000484726.5",
"protein_id": "ENSP00000431516.1",
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},
{
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],
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},
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],
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"gene_symbol": "BNC2",
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"hgvs_c": "c.795+39780T>C",
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},
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],
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],
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],
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],
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"gene_symbol": "BNC2",
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],
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},
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],
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"hgvs_c": "c.543+39780T>C",
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{
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],
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"gnomad_genomes_ac": 16909,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.51,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000380672.9",
"gene_symbol": "BNC2",
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"effects": [
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"inheritance_mode": "AD,AR",
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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
}