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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: 15-41520554-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41520554&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41520554,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015540.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "NM_015540.4",
"protein_id": "NP_056355.2",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "ENST00000304330.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015540.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "ENST00000304330.9",
"protein_id": "ENSP00000306123.4",
"transcript_support_level": 1,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "NM_015540.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304330.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.3632A>G",
"hgvs_p": null,
"transcript": "ENST00000562303.5",
"protein_id": "ENSP00000455363.1",
"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": 5897,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562303.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.648A>G",
"hgvs_p": null,
"transcript": "ENST00000565167.1",
"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": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565167.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "ENST00000867493.1",
"protein_id": "ENSP00000537552.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3915,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867493.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "ENST00000912254.1",
"protein_id": "ENSP00000582313.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912254.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "ENST00000912256.1",
"protein_id": "ENSP00000582315.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912256.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3611A>G",
"hgvs_p": "p.Tyr1204Cys",
"transcript": "ENST00000912252.1",
"protein_id": "ENSP00000582311.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3611,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912252.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Tyr1189Cys",
"transcript": "ENST00000867487.1",
"protein_id": "ENSP00000537546.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3566,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3696,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867487.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Tyr1189Cys",
"transcript": "ENST00000912253.1",
"protein_id": "ENSP00000582312.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3566,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912253.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3533A>G",
"hgvs_p": "p.Tyr1178Cys",
"transcript": "ENST00000867488.1",
"protein_id": "ENSP00000537547.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3533,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867488.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3530A>G",
"hgvs_p": "p.Tyr1177Cys",
"transcript": "ENST00000867491.1",
"protein_id": "ENSP00000537550.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3530,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3654,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867491.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3479A>G",
"hgvs_p": "p.Tyr1160Cys",
"transcript": "ENST00000912250.1",
"protein_id": "ENSP00000582309.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3479,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912250.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3473A>G",
"hgvs_p": "p.Tyr1158Cys",
"transcript": "ENST00000867490.1",
"protein_id": "ENSP00000537549.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867490.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3452A>G",
"hgvs_p": "p.Tyr1151Cys",
"transcript": "ENST00000867494.1",
"protein_id": "ENSP00000537553.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3567,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867494.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3440A>G",
"hgvs_p": "p.Tyr1147Cys",
"transcript": "ENST00000867492.1",
"protein_id": "ENSP00000537551.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3440,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 3555,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867492.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3293A>G",
"hgvs_p": "p.Tyr1098Cys",
"transcript": "ENST00000912251.1",
"protein_id": "ENSP00000582310.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3408,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912251.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3140A>G",
"hgvs_p": "p.Tyr1047Cys",
"transcript": "ENST00000867489.1",
"protein_id": "ENSP00000537548.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867489.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3113A>G",
"hgvs_p": "p.Tyr1038Cys",
"transcript": "ENST00000867495.1",
"protein_id": "ENSP00000537554.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3113,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867495.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "XM_005254297.2",
"protein_id": "XP_005254354.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3632,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254297.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3452A>G",
"hgvs_p": "p.Tyr1151Cys",
"transcript": "XM_047432374.1",
"protein_id": "XP_047288330.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3567,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432374.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3452A>G",
"hgvs_p": "p.Tyr1151Cys",
"transcript": "XM_047432375.1",
"protein_id": "XP_047288331.1",
"transcript_support_level": null,
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{
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],
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"dbsnp": "rs143116680",
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.921,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Tyr1211Cys"
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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
}