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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: 3-9840238-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9840238&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9840238,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173659.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "NM_173659.5",
"protein_id": "NP_775930.3",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 343,
"cds_start": 646,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": "ENST00000383820.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173659.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000383820.10",
"protein_id": "ENSP00000373331.6",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 343,
"cds_start": 646,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": "NM_173659.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383820.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.601C>G",
"hgvs_p": "p.Arg201Gly",
"transcript": "ENST00000433535.7",
"protein_id": "ENSP00000398921.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 328,
"cds_start": 601,
"cds_end": null,
"cds_length": 987,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433535.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.772C>G",
"hgvs_p": "p.Arg258Gly",
"transcript": "ENST00000923702.1",
"protein_id": "ENSP00000593761.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 385,
"cds_start": 772,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923702.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000954644.1",
"protein_id": "ENSP00000624703.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 355,
"cds_start": 646,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954644.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000923701.1",
"protein_id": "ENSP00000593760.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 343,
"cds_start": 646,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923701.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Arg214Gly",
"transcript": "ENST00000870303.1",
"protein_id": "ENSP00000540362.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 341,
"cds_start": 640,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870303.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Arg213Gly",
"transcript": "ENST00000923703.1",
"protein_id": "ENSP00000593762.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 340,
"cds_start": 637,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923703.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.616C>G",
"hgvs_p": "p.Arg206Gly",
"transcript": "ENST00000954645.1",
"protein_id": "ENSP00000624704.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 333,
"cds_start": 616,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954645.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.601C>G",
"hgvs_p": "p.Arg201Gly",
"transcript": "NM_001142547.3",
"protein_id": "NP_001136019.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 328,
"cds_start": 601,
"cds_end": null,
"cds_length": 987,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142547.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.538C>G",
"hgvs_p": "p.Arg180Gly",
"transcript": "ENST00000870304.1",
"protein_id": "ENSP00000540363.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 307,
"cds_start": 538,
"cds_end": null,
"cds_length": 924,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870304.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.674C>G",
"hgvs_p": "p.Ser225Trp",
"transcript": "NM_001351738.2",
"protein_id": "NP_001338667.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 281,
"cds_start": 674,
"cds_end": null,
"cds_length": 846,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351738.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Ser223Trp",
"transcript": "ENST00000427174.5",
"protein_id": "ENSP00000400397.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 279,
"cds_start": 668,
"cds_end": null,
"cds_length": 840,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427174.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000418713.6",
"protein_id": "ENSP00000415616.2",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 242,
"cds_start": 646,
"cds_end": null,
"cds_length": 729,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418713.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "NM_001351737.2",
"protein_id": "NP_001338666.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 236,
"cds_start": 646,
"cds_end": null,
"cds_length": 711,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351737.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Arg192Gly",
"transcript": "NM_001351736.3",
"protein_id": "NP_001338665.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 212,
"cds_start": 574,
"cds_end": null,
"cds_length": 639,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351736.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Arg192Gly",
"transcript": "ENST00000424438.5",
"protein_id": "ENSP00000408693.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 212,
"cds_start": 574,
"cds_end": null,
"cds_length": 639,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424438.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.154C>G",
"hgvs_p": "p.Arg52Gly",
"transcript": "ENST00000423108.5",
"protein_id": "ENSP00000405054.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 143,
"cds_start": 154,
"cds_end": null,
"cds_length": 432,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423108.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.918+10843G>C",
"hgvs_p": null,
"transcript": "ENST00000455274.5",
"protein_id": "ENSP00000409632.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455274.5"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.576+294C>G",
"hgvs_p": null,
"transcript": "ENST00000923705.1",
"protein_id": "ENSP00000593764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923705.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.246+1745C>G",
"hgvs_p": null,
"transcript": "ENST00000923704.1",
"protein_id": "ENSP00000593763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923704.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPUSD3",
"gene_hgnc_id": 28437,
"hgvs_c": "c.201+1745C>G",
"hgvs_p": null,
"transcript": "ENST00000923706.1",
"protein_id": "ENSP00000593765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923706.1"
},
{
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{
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{
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.4903358817100525,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.285,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
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"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000455274.5",
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"intron_variant"
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}