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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: 10-102282852-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102282852&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102282852,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000369983.5",
"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": 40,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "NM_001377137.1",
"protein_id": "NP_001364066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": "ENST00000369983.5",
"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": 40,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "ENST00000369983.5",
"protein_id": "ENSP00000359000.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": "NM_001377137.1",
"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": 41,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "NM_001411027.1",
"protein_id": "NP_001397956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": -4,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6499,
"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": 41,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "ENST00000673650.1",
"protein_id": "ENSP00000501233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": -4,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6502,
"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": 41,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "NM_001391922.1",
"protein_id": "NP_001378851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1888,
"cds_start": -4,
"cds_end": null,
"cds_length": 5667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6487,
"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": 41,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "NM_001411003.1",
"protein_id": "NP_001397932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1884,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6475,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "ENST00000674034.1",
"protein_id": "ENSP00000501064.1",
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"aa_start": null,
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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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "NM_001377141.1",
"protein_id": "NP_001364070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1859,
"cds_start": -4,
"cds_end": null,
"cds_length": 5580,
"cdna_start": null,
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"cdna_length": 6499,
"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": 40,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.163+22736G>A",
"hgvs_p": null,
"transcript": "NM_004193.3",
"protein_id": "NP_004184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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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"consequences": [
"intron_variant"
],
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"gene_symbol": "GBF1",
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"hgvs_c": "c.163+22736G>A",
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"transcript": "ENST00000676513.1",
"protein_id": "ENSP00000503207.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "GBF1",
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"transcript": "ENST00000676939.1",
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],
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],
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"gene_symbol": "GBF1",
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],
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"transcript": "NM_001391925.1",
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],
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],
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"gene_symbol": "GBF1",
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{
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.88,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000369983.5",
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"effects": [
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}