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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: 22-24525738-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24525738&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24525738,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016327.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1099C>G",
"hgvs_p": "p.Arg367Gly",
"transcript": "NM_016327.3",
"protein_id": "NP_057411.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 384,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326010.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016327.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1099C>G",
"hgvs_p": "p.Arg367Gly",
"transcript": "ENST00000326010.10",
"protein_id": "ENSP00000324343.5",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 384,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016327.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326010.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "n.395C>G",
"hgvs_p": null,
"transcript": "ENST00000498140.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000498140.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"transcript": "ENST00000858218.1",
"protein_id": "ENSP00000528277.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 428,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858218.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "ENST00000858215.1",
"protein_id": "ENSP00000528274.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 401,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858215.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1123C>G",
"hgvs_p": "p.Arg375Gly",
"transcript": "ENST00000858213.1",
"protein_id": "ENSP00000528272.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 392,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858213.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "ENST00000858219.1",
"protein_id": "ENSP00000528278.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 388,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858219.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1096C>G",
"hgvs_p": "p.Arg366Gly",
"transcript": "ENST00000858225.1",
"protein_id": "ENSP00000528284.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 383,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858225.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Arg364Gly",
"transcript": "ENST00000858223.1",
"protein_id": "ENSP00000528282.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 381,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858223.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Arg359Gly",
"transcript": "ENST00000858222.1",
"protein_id": "ENSP00000528281.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 376,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858222.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"transcript": "ENST00000858209.1",
"protein_id": "ENSP00000528267.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858209.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1054C>G",
"hgvs_p": "p.Arg352Gly",
"transcript": "ENST00000858211.1",
"protein_id": "ENSP00000528269.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 369,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858211.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Arg350Gly",
"transcript": "ENST00000858210.1",
"protein_id": "ENSP00000528268.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 367,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858210.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1042C>G",
"hgvs_p": "p.Arg348Gly",
"transcript": "ENST00000858217.1",
"protein_id": "ENSP00000528276.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 365,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858217.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Arg347Gly",
"transcript": "ENST00000858226.1",
"protein_id": "ENSP00000528285.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 364,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858226.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.952C>G",
"hgvs_p": "p.Arg318Gly",
"transcript": "ENST00000858220.1",
"protein_id": "ENSP00000528279.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 335,
"cds_start": 952,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858220.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.928C>G",
"hgvs_p": "p.Arg310Gly",
"transcript": "ENST00000858224.1",
"protein_id": "ENSP00000528283.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 327,
"cds_start": 928,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858224.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Arg301Gly",
"transcript": "ENST00000858208.1",
"protein_id": "ENSP00000528266.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 318,
"cds_start": 901,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858208.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.886C>G",
"hgvs_p": "p.Arg296Gly",
"transcript": "ENST00000858203.1",
"protein_id": "ENSP00000528264.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 313,
"cds_start": 886,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858203.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "ENST00000858212.1",
"protein_id": "ENSP00000528270.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 234,
"cds_start": 649,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "n.*798C>G",
"hgvs_p": null,
"transcript": "ENST00000415388.5",
"protein_id": "ENSP00000400684.1",
"transcript_support_level": 5,
"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": "ENST00000415388.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"hgvs_c": "n.*798C>G",
"hgvs_p": null,
"transcript": "ENST00000415388.5",
"protein_id": "ENSP00000400684.1",
"transcript_support_level": 5,
"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": "ENST00000415388.5"
}
],
"gene_symbol": "UPB1",
"gene_hgnc_id": 16297,
"dbsnp": "rs542324398",
"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": 0.1999209225177765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0779,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.546,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016327.3",
"gene_symbol": "UPB1",
"hgnc_id": 16297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1099C>G",
"hgvs_p": "p.Arg367Gly"
}
],
"clinvar_disease": "Deficiency of beta-ureidopropionase",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Deficiency of beta-ureidopropionase",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}