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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: 3-9840277-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9840277&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9840277,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173659.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"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.607G>T",
"hgvs_p": "p.Asp203Tyr",
"transcript": "NM_173659.5",
"protein_id": "NP_775930.3",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 343,
"cds_start": 607,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": "ENST00000383820.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173659.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.607G>T",
"hgvs_p": "p.Asp203Tyr",
"transcript": "ENST00000383820.10",
"protein_id": "ENSP00000373331.6",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 343,
"cds_start": 607,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": "NM_173659.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383820.10"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.562G>T",
"hgvs_p": "p.Asp188Tyr",
"transcript": "ENST00000433535.7",
"protein_id": "ENSP00000398921.3",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 328,
"cds_start": 562,
"cds_end": null,
"cds_length": 987,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433535.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.733G>T",
"hgvs_p": "p.Asp245Tyr",
"transcript": "ENST00000923702.1",
"protein_id": "ENSP00000593761.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 385,
"cds_start": 733,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923702.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.607G>T",
"hgvs_p": "p.Asp203Tyr",
"transcript": "ENST00000954644.1",
"protein_id": "ENSP00000624703.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 355,
"cds_start": 607,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954644.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.607G>T",
"hgvs_p": "p.Asp203Tyr",
"transcript": "ENST00000923701.1",
"protein_id": "ENSP00000593760.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 343,
"cds_start": 607,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923701.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.601G>T",
"hgvs_p": "p.Asp201Tyr",
"transcript": "ENST00000870303.1",
"protein_id": "ENSP00000540362.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 341,
"cds_start": 601,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870303.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.598G>T",
"hgvs_p": "p.Asp200Tyr",
"transcript": "ENST00000923703.1",
"protein_id": "ENSP00000593762.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 340,
"cds_start": 598,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923703.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.577G>T",
"hgvs_p": "p.Asp193Tyr",
"transcript": "ENST00000954645.1",
"protein_id": "ENSP00000624704.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 333,
"cds_start": 577,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954645.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.562G>T",
"hgvs_p": "p.Asp188Tyr",
"transcript": "NM_001142547.3",
"protein_id": "NP_001136019.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 328,
"cds_start": 562,
"cds_end": null,
"cds_length": 987,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142547.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.499G>T",
"hgvs_p": "p.Asp167Tyr",
"transcript": "ENST00000870304.1",
"protein_id": "ENSP00000540363.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 307,
"cds_start": 499,
"cds_end": null,
"cds_length": 924,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870304.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.635G>T",
"hgvs_p": "p.Gly212Val",
"transcript": "NM_001351738.2",
"protein_id": "NP_001338667.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 281,
"cds_start": 635,
"cds_end": null,
"cds_length": 846,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351738.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.629G>T",
"hgvs_p": "p.Gly210Val",
"transcript": "ENST00000427174.5",
"protein_id": "ENSP00000400397.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 279,
"cds_start": 629,
"cds_end": null,
"cds_length": 840,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427174.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.607G>T",
"hgvs_p": "p.Asp203Tyr",
"transcript": "ENST00000418713.6",
"protein_id": "ENSP00000415616.2",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 242,
"cds_start": 607,
"cds_end": null,
"cds_length": 729,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418713.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.607G>T",
"hgvs_p": "p.Asp203Tyr",
"transcript": "NM_001351737.2",
"protein_id": "NP_001338666.2",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 236,
"cds_start": 607,
"cds_end": null,
"cds_length": 711,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351737.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.535G>T",
"hgvs_p": "p.Asp179Tyr",
"transcript": "NM_001351736.3",
"protein_id": "NP_001338665.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 212,
"cds_start": 535,
"cds_end": null,
"cds_length": 639,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351736.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.535G>T",
"hgvs_p": "p.Asp179Tyr",
"transcript": "ENST00000424438.5",
"protein_id": "ENSP00000408693.1",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 212,
"cds_start": 535,
"cds_end": null,
"cds_length": 639,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424438.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"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.115G>T",
"hgvs_p": "p.Asp39Tyr",
"transcript": "ENST00000423108.5",
"protein_id": "ENSP00000405054.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 143,
"cds_start": 115,
"cds_end": null,
"cds_length": 432,
"cdna_start": 117,
"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+10882C>A",
"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+255G>T",
"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+1706G>T",
"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+1706G>T",
"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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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.42,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BP4"
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"verdict": "Uncertain_significance",
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{
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}