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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: 11-1443490-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1443490&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1443490,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001440665.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001256627.2",
"protein_id": "NP_001243556.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 736,
"cds_start": 635,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000528841.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256627.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000528841.6",
"protein_id": "ENSP00000432000.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 736,
"cds_start": 635,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256627.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528841.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000526678.5",
"protein_id": "ENSP00000433370.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 696,
"cds_start": 635,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526678.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000531197.5",
"protein_id": "ENSP00000431152.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 674,
"cds_start": 635,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531197.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000308219.13",
"protein_id": "ENSP00000310697.9",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 668,
"cds_start": 635,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308219.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "n.635G>A",
"hgvs_p": null,
"transcript": "ENST00000529433.5",
"protein_id": "ENSP00000433684.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529433.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001440665.1",
"protein_id": "NP_001427594.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440665.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001440666.1",
"protein_id": "NP_001427595.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 790,
"cds_start": 635,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440666.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Gly253Glu",
"transcript": "ENST00000938457.1",
"protein_id": "ENSP00000608516.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 783,
"cds_start": 758,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938457.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Gly258Glu",
"transcript": "NM_001256630.1",
"protein_id": "NP_001243559.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 766,
"cds_start": 773,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256630.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Gly258Glu",
"transcript": "ENST00000382179.5",
"protein_id": "ENSP00000371614.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 766,
"cds_start": 773,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382179.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000949451.1",
"protein_id": "ENSP00000619510.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 758,
"cds_start": 635,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949451.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000938456.1",
"protein_id": "ENSP00000608515.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 742,
"cds_start": 635,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938456.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000949452.1",
"protein_id": "ENSP00000619511.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 726,
"cds_start": 635,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949452.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000938455.1",
"protein_id": "ENSP00000608514.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 720,
"cds_start": 635,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938455.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Gly258Glu",
"transcript": "NM_001440667.1",
"protein_id": "NP_001427596.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 714,
"cds_start": 773,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440667.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001440668.1",
"protein_id": "NP_001427597.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 690,
"cds_start": 635,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440668.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Gly152Glu",
"transcript": "NM_001440669.1",
"protein_id": "NP_001427598.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 676,
"cds_start": 455,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440669.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001256629.2",
"protein_id": "NP_001243558.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 674,
"cds_start": 635,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256629.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001440670.1",
"protein_id": "NP_001427599.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 674,
"cds_start": 635,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440670.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_003957.4",
"protein_id": "NP_003948.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 668,
"cds_start": 635,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003957.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
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"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524702.5"
}
],
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"dbsnp": "rs1554904772",
"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": 0.9848629832267761,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4519999921321869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.7,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.486,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.2602730923707,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001440665.1",
"gene_symbol": "BRSK2",
"hgnc_id": 11405,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}