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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: 19-623546-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=623546&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 623546,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000588649.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_005035.4",
"protein_id": "NP_005026.3",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": "ENST00000588649.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "ENST00000588649.7",
"protein_id": "ENSP00000465759.2",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": "NM_005035.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407805.1",
"protein_id": "NP_001394734.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407806.1",
"protein_id": "NP_001394735.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407807.1",
"protein_id": "NP_001394736.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1233,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407808.1",
"protein_id": "NP_001394737.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1233,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407809.1",
"protein_id": "NP_001394738.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1227,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407810.1",
"protein_id": "NP_001394739.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1156T>C",
"hgvs_p": "p.Phe386Leu",
"transcript": "NM_001407811.1",
"protein_id": "NP_001394740.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407812.1",
"protein_id": "NP_001394741.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1156T>C",
"hgvs_p": "p.Phe386Leu",
"transcript": "NM_001407813.1",
"protein_id": "NP_001394742.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407814.1",
"protein_id": "NP_001394743.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1211,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407815.1",
"protein_id": "NP_001394744.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1204,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407816.1",
"protein_id": "NP_001394745.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1197,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407829.1",
"protein_id": "NP_001394758.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1196,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407830.1",
"protein_id": "NP_001394759.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1155,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.874T>C",
"hgvs_p": "p.Phe292Leu",
"transcript": "NM_001407831.1",
"protein_id": "NP_001394760.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1129,
"cds_start": 874,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.1198T>C",
"hgvs_p": "p.Phe400Leu",
"transcript": "NM_001407832.1",
"protein_id": "NP_001394761.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1198,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.874T>C",
"hgvs_p": "p.Phe292Leu",
"transcript": "NM_001407833.1",
"protein_id": "NP_001394762.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1122,
"cds_start": 874,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.874T>C",
"hgvs_p": "p.Phe292Leu",
"transcript": "NM_001407834.1",
"protein_id": "NP_001394763.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1119,
"cds_start": 874,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.874T>C",
"hgvs_p": "p.Phe292Leu",
"transcript": "NM_001407835.1",
"protein_id": "NP_001394764.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1109,
"cds_start": 874,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
"gene_hgnc_id": 9200,
"hgvs_c": "c.874T>C",
"hgvs_p": "p.Phe292Leu",
"transcript": "NM_001407836.1",
"protein_id": "NP_001394765.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1096,
"cds_start": 874,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLRMT",
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{
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{
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},
{
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}
],
"gene_symbol": "POLRMT",
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"computational_score_selected": 0.002031862735748291,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.435,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000588649.7",
"gene_symbol": "POLRMT",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
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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
}