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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: 1-19192233-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19192233&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19192233,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020765.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "NM_020765.3",
"protein_id": "NP_065816.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5183,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15552,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15892,
"mane_select": "ENST00000375254.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "ENST00000375254.8",
"protein_id": "ENSP00000364403.3",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 5183,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15552,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15892,
"mane_select": "NM_020765.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_011541114.4",
"protein_id": "XP_011539416.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5228,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15687,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 16027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_017000822.3",
"protein_id": "XP_016856311.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5227,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15684,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 16024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416458.1",
"protein_id": "XP_047272414.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5227,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15684,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 16024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_011541115.4",
"protein_id": "XP_011539417.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5226,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15681,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 16021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 108,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416463.1",
"protein_id": "XP_047272419.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5225,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15678,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 16018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416464.1",
"protein_id": "XP_047272420.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5217,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15654,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416467.1",
"protein_id": "XP_047272423.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5216,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15651,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416468.1",
"protein_id": "XP_047272424.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5216,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15651,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416471.1",
"protein_id": "XP_047272427.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5215,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15648,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416475.1",
"protein_id": "XP_047272431.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5214,
"cds_start": 1349,
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"cds_length": 15645,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 15985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416480.1",
"protein_id": "XP_047272436.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5212,
"cds_start": 1349,
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"cds_length": 15639,
"cdna_start": 1367,
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"cdna_length": 15979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
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"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416481.1",
"protein_id": "XP_047272437.1",
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"cdna_start": 1367,
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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": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416483.1",
"protein_id": "XP_047272439.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5210,
"cds_start": 1349,
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"cdna_start": 1367,
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"cdna_length": 15973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416484.1",
"protein_id": "XP_047272440.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_017000824.3",
"protein_id": "XP_016856313.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5200,
"cds_start": 1349,
"cds_end": null,
"cds_length": 15603,
"cdna_start": 1367,
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"cdna_length": 15943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416493.1",
"protein_id": "XP_047272449.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5199,
"cds_start": 1349,
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"cdna_start": 1367,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
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"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416494.1",
"protein_id": "XP_047272450.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416495.1",
"protein_id": "XP_047272451.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416497.1",
"protein_id": "XP_047272453.1",
"transcript_support_level": null,
"aa_start": 450,
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"aa_length": 5198,
"cds_start": 1349,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR4",
"gene_hgnc_id": 30313,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_047416498.1",
"protein_id": "XP_047272454.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 5197,
"cds_start": 1349,
"cds_end": null,
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"cdna_start": 1367,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"gene_symbol": "UBR4",
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"dbsnp": "rs757121959",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.6397609114646912,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.307,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6405,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.52,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_020765.3",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}