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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: 1-19078028-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19078028&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19078028,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000375254.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 104,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15272G>A",
"hgvs_p": "p.Arg5091His",
"transcript": "NM_020765.3",
"protein_id": "NP_065816.2",
"transcript_support_level": null,
"aa_start": 5091,
"aa_end": null,
"aa_length": 5183,
"cds_start": 15272,
"cds_end": null,
"cds_length": 15552,
"cdna_start": 15290,
"cdna_end": null,
"cdna_length": 15892,
"mane_select": "ENST00000375254.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 104,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15272G>A",
"hgvs_p": "p.Arg5091His",
"transcript": "ENST00000375254.8",
"protein_id": "ENSP00000364403.3",
"transcript_support_level": 1,
"aa_start": 5091,
"aa_end": null,
"aa_length": 5183,
"cds_start": 15272,
"cds_end": null,
"cds_length": 15552,
"cdna_start": 15290,
"cdna_end": null,
"cdna_length": 15892,
"mane_select": "NM_020765.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.2393G>A",
"hgvs_p": "p.Arg798His",
"transcript": "ENST00000375224.1",
"protein_id": "ENSP00000364372.1",
"transcript_support_level": 2,
"aa_start": 798,
"aa_end": null,
"aa_length": 890,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2877,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "ENST00000375225.7",
"protein_id": "ENSP00000364373.3",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 258,
"cds_start": 497,
"cds_end": null,
"cds_length": 777,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 106,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15407G>A",
"hgvs_p": "p.Arg5136His",
"transcript": "XM_011541114.4",
"protein_id": "XP_011539416.3",
"transcript_support_level": null,
"aa_start": 5136,
"aa_end": null,
"aa_length": 5228,
"cds_start": 15407,
"cds_end": null,
"cds_length": 15687,
"cdna_start": 15425,
"cdna_end": null,
"cdna_length": 16027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 106,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15404G>A",
"hgvs_p": "p.Arg5135His",
"transcript": "XM_017000822.3",
"protein_id": "XP_016856311.3",
"transcript_support_level": null,
"aa_start": 5135,
"aa_end": null,
"aa_length": 5227,
"cds_start": 15404,
"cds_end": null,
"cds_length": 15684,
"cdna_start": 15422,
"cdna_end": null,
"cdna_length": 16024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 106,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15404G>A",
"hgvs_p": "p.Arg5135His",
"transcript": "XM_047416458.1",
"protein_id": "XP_047272414.1",
"transcript_support_level": null,
"aa_start": 5135,
"aa_end": null,
"aa_length": 5227,
"cds_start": 15404,
"cds_end": null,
"cds_length": 15684,
"cdna_start": 15422,
"cdna_end": null,
"cdna_length": 16024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 106,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15401G>A",
"hgvs_p": "p.Arg5134His",
"transcript": "XM_011541115.4",
"protein_id": "XP_011539417.3",
"transcript_support_level": null,
"aa_start": 5134,
"aa_end": null,
"aa_length": 5226,
"cds_start": 15401,
"cds_end": null,
"cds_length": 15681,
"cdna_start": 15419,
"cdna_end": null,
"cdna_length": 16021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 106,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15398G>A",
"hgvs_p": "p.Arg5133His",
"transcript": "XM_047416463.1",
"protein_id": "XP_047272419.1",
"transcript_support_level": null,
"aa_start": 5133,
"aa_end": null,
"aa_length": 5225,
"cds_start": 15398,
"cds_end": null,
"cds_length": 15678,
"cdna_start": 15416,
"cdna_end": null,
"cdna_length": 16018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15374G>A",
"hgvs_p": "p.Arg5125His",
"transcript": "XM_047416464.1",
"protein_id": "XP_047272420.1",
"transcript_support_level": null,
"aa_start": 5125,
"aa_end": null,
"aa_length": 5217,
"cds_start": 15374,
"cds_end": null,
"cds_length": 15654,
"cdna_start": 15392,
"cdna_end": null,
"cdna_length": 15994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15371G>A",
"hgvs_p": "p.Arg5124His",
"transcript": "XM_047416467.1",
"protein_id": "XP_047272423.1",
"transcript_support_level": null,
"aa_start": 5124,
"aa_end": null,
"aa_length": 5216,
"cds_start": 15371,
"cds_end": null,
"cds_length": 15651,
"cdna_start": 15389,
"cdna_end": null,
"cdna_length": 15991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15371G>A",
"hgvs_p": "p.Arg5124His",
"transcript": "XM_047416468.1",
"protein_id": "XP_047272424.1",
"transcript_support_level": null,
"aa_start": 5124,
"aa_end": null,
"aa_length": 5216,
"cds_start": 15371,
"cds_end": null,
"cds_length": 15651,
"cdna_start": 15389,
"cdna_end": null,
"cdna_length": 15991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15368G>A",
"hgvs_p": "p.Arg5123His",
"transcript": "XM_047416471.1",
"protein_id": "XP_047272427.1",
"transcript_support_level": null,
"aa_start": 5123,
"aa_end": null,
"aa_length": 5215,
"cds_start": 15368,
"cds_end": null,
"cds_length": 15648,
"cdna_start": 15386,
"cdna_end": null,
"cdna_length": 15988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15365G>A",
"hgvs_p": "p.Arg5122His",
"transcript": "XM_047416475.1",
"protein_id": "XP_047272431.1",
"transcript_support_level": null,
"aa_start": 5122,
"aa_end": null,
"aa_length": 5214,
"cds_start": 15365,
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"cds_length": 15645,
"cdna_start": 15383,
"cdna_end": null,
"cdna_length": 15985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15359G>A",
"hgvs_p": "p.Arg5120His",
"transcript": "XM_047416480.1",
"protein_id": "XP_047272436.1",
"transcript_support_level": null,
"aa_start": 5120,
"aa_end": null,
"aa_length": 5212,
"cds_start": 15359,
"cds_end": null,
"cds_length": 15639,
"cdna_start": 15377,
"cdna_end": null,
"cdna_length": 15979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15356G>A",
"hgvs_p": "p.Arg5119His",
"transcript": "XM_047416481.1",
"protein_id": "XP_047272437.1",
"transcript_support_level": null,
"aa_start": 5119,
"aa_end": null,
"aa_length": 5211,
"cds_start": 15356,
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"cdna_start": 15374,
"cdna_end": null,
"cdna_length": 15976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15353G>A",
"hgvs_p": "p.Arg5118His",
"transcript": "XM_047416483.1",
"protein_id": "XP_047272439.1",
"transcript_support_level": null,
"aa_start": 5118,
"aa_end": null,
"aa_length": 5210,
"cds_start": 15353,
"cds_end": null,
"cds_length": 15633,
"cdna_start": 15371,
"cdna_end": null,
"cdna_length": 15973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15350G>A",
"hgvs_p": "p.Arg5117His",
"transcript": "XM_047416484.1",
"protein_id": "XP_047272440.1",
"transcript_support_level": null,
"aa_start": 5117,
"aa_end": null,
"aa_length": 5209,
"cds_start": 15350,
"cds_end": null,
"cds_length": 15630,
"cdna_start": 15368,
"cdna_end": null,
"cdna_length": 15970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15323G>A",
"hgvs_p": "p.Arg5108His",
"transcript": "XM_017000824.3",
"protein_id": "XP_016856313.3",
"transcript_support_level": null,
"aa_start": 5108,
"aa_end": null,
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"cdna_start": 15341,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15320G>A",
"hgvs_p": "p.Arg5107His",
"transcript": "XM_047416493.1",
"protein_id": "XP_047272449.1",
"transcript_support_level": null,
"aa_start": 5107,
"aa_end": null,
"aa_length": 5199,
"cds_start": 15320,
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"cdna_start": 15338,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15320G>A",
"hgvs_p": "p.Arg5107His",
"transcript": "XM_047416494.1",
"protein_id": "XP_047272450.1",
"transcript_support_level": null,
"aa_start": 5107,
"aa_end": null,
"aa_length": 5199,
"cds_start": 15320,
"cds_end": null,
"cds_length": 15600,
"cdna_start": 15338,
"cdna_end": null,
"cdna_length": 15940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.15317G>A",
"hgvs_p": "p.Arg5106His",
"transcript": "XM_047416495.1",
"protein_id": "XP_047272451.1",
"transcript_support_level": null,
"aa_start": 5106,
"aa_end": null,
"aa_length": 5198,
"cds_start": 15317,
"cds_end": null,
"cds_length": 15597,
"cdna_start": 15335,
"cdna_end": null,
"cdna_length": 15937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 105,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
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},
{
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],
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}
],
"gene_symbol": "UBR4",
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"dbsnp": "rs587777845",
"frequency_reference_population": 0.0000075250414,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000752504,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8025505542755127,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.502,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.262,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
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"pathogenic_score": 1,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375254.8",
"gene_symbol": "UBR4",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}