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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: 5-77437422-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=77437422&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 77437422,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_018268.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Gln336Arg",
"transcript": "NM_018268.4",
"protein_id": "NP_060738.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 459,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296679.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018268.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Gln336Arg",
"transcript": "ENST00000296679.9",
"protein_id": "ENSP00000296679.4",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 459,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018268.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296679.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "n.2004A>G",
"hgvs_p": null,
"transcript": "ENST00000502528.5",
"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": "retained_intron",
"feature": "ENST00000502528.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Gln341Arg",
"transcript": "ENST00000862580.1",
"protein_id": "ENSP00000532639.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 464,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862580.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Gln336Arg",
"transcript": "ENST00000912488.1",
"protein_id": "ENSP00000582547.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 459,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912488.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.962A>G",
"hgvs_p": "p.Gln321Arg",
"transcript": "ENST00000955389.1",
"protein_id": "ENSP00000625448.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 444,
"cds_start": 962,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955389.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Gln320Arg",
"transcript": "ENST00000955388.1",
"protein_id": "ENSP00000625447.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 443,
"cds_start": 959,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955388.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000862582.1",
"protein_id": "ENSP00000532641.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 432,
"cds_start": 926,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862582.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Gln281Arg",
"transcript": "ENST00000507029.5",
"protein_id": "ENSP00000424287.1",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 404,
"cds_start": 842,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507029.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Gln273Arg",
"transcript": "ENST00000862581.1",
"protein_id": "ENSP00000532640.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 396,
"cds_start": 818,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862581.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Gln271Arg",
"transcript": "ENST00000515253.5",
"protein_id": "ENSP00000426499.1",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 394,
"cds_start": 812,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515253.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Gln107Arg",
"transcript": "ENST00000507654.5",
"protein_id": "ENSP00000427291.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 139,
"cds_start": 320,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507654.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Gln333Arg",
"transcript": "XM_011543505.3",
"protein_id": "XP_011541807.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 456,
"cds_start": 998,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543505.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.Gln332Arg",
"transcript": "XM_017009606.2",
"protein_id": "XP_016865095.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 455,
"cds_start": 995,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009606.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.851A>G",
"hgvs_p": "p.Gln284Arg",
"transcript": "XM_047417349.1",
"protein_id": "XP_047273305.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 407,
"cds_start": 851,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417349.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.851A>G",
"hgvs_p": "p.Gln284Arg",
"transcript": "XM_047417350.1",
"protein_id": "XP_047273306.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 407,
"cds_start": 851,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417350.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Gln278Arg",
"transcript": "XM_005248551.5",
"protein_id": "XP_005248608.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 401,
"cds_start": 833,
"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": "XM_005248551.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Gln336Arg",
"transcript": "XM_047417351.1",
"protein_id": "XP_047273307.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 374,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417351.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Gln336Arg",
"transcript": "XM_005248552.4",
"protein_id": "XP_005248609.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 367,
"cds_start": 1007,
"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": "XM_005248552.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.882+3391A>G",
"hgvs_p": null,
"transcript": "ENST00000862583.1",
"protein_id": "ENSP00000532642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.412-4135A>G",
"hgvs_p": null,
"transcript": "ENST00000955390.1",
"protein_id": "ENSP00000625449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "WDR41",
"gene_hgnc_id": 25601,
"hgvs_c": "c.479+818A>G",
"hgvs_p": null,
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{
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{
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{
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{
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],
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],
"gene_symbol": "WDR41",
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"dbsnp": "rs17856057",
"frequency_reference_population": 6.843175e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84317e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2661377787590027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.136,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.656,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018268.4",
"gene_symbol": "WDR41",
"hgnc_id": 25601,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1007A>G",
"hgvs_p": "p.Gln336Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}