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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: 15-72728003-AACTCTGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72728003&ref=AACTCTGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72728003,
"ref": "AACTCTGT",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000268057.9",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.642+14_642+20delTGTACTC",
"hgvs_p": null,
"transcript": "NM_033028.5",
"protein_id": "NP_149017.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": -4,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": "ENST00000268057.9",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.642+10_642+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000268057.9",
"protein_id": "ENSP00000268057.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": -4,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": "NM_033028.5",
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.126+10_126+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000395205.7",
"protein_id": "ENSP00000378631.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2038,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.126+10_126+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000566400.6",
"protein_id": "ENSP00000456759.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*721+10_*721+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000562084.5",
"protein_id": "ENSP00000454718.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.147-3301_147-3295delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000562219.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1004,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.642+10_642+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000566197.2",
"protein_id": "ENSP00000457479.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.666+10_666+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000566829.2",
"protein_id": "ENSP00000455958.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2268,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.642+14_642+20delTGTACTC",
"hgvs_p": null,
"transcript": "NM_001320665.2",
"protein_id": "NP_001307594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.642+10_642+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000569338.6",
"protein_id": "ENSP00000456758.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5910,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.126+14_126+20delTGTACTC",
"hgvs_p": null,
"transcript": "NM_001252678.2",
"protein_id": "NP_001239607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.126+10_126+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000718298.1",
"protein_id": "ENSP00000520733.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 347,
"cds_start": -4,
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"cdna_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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.126+10_126+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000566938.6",
"protein_id": "ENSP00000456463.2",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*218+10_*218+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000561914.6",
"protein_id": "ENSP00000457795.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 9,
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"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*218+10_*218+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000565160.6",
"protein_id": "ENSP00000455412.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*496+10_*496+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000567279.5",
"protein_id": "ENSP00000456664.1",
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},
{
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"strand": true,
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],
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"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.588-3301_588-3295delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000718296.1",
"protein_id": "ENSP00000520731.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*136+10_*136+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000718297.1",
"protein_id": "ENSP00000520732.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.780+10_780+16delACTCTGT",
"hgvs_p": null,
"transcript": "ENST00000718299.1",
"protein_id": null,
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},
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],
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"intron_rank": 8,
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"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.1046+10_1046+16delACTCTGT",
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"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "BBS4",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.976+14_976+20delTGTACTC",
"hgvs_p": null,
"transcript": "NR_045566.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.606+14_606+20delTGTACTC",
"hgvs_p": null,
"transcript": "XM_047432911.1",
"protein_id": "XP_047288867.1",
"transcript_support_level": null,
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"cds_start": -4,
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}
],
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"dbsnp": "rs886038705",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.766,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Very_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000268057.9",
"gene_symbol": "BBS4",
"hgnc_id": 969,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.642+10_642+16delACTCTGT",
"hgvs_p": null
}
],
"clinvar_disease": "Bardet-Biedl syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|Bardet-Biedl syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}