← Back to variant description
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: 1-171523270-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=171523270&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 171523270,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387844.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "NM_001387844.1",
"protein_id": "NP_001374773.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2898,
"cds_start": 883,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647382.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387844.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "ENST00000647382.2",
"protein_id": "ENSP00000495867.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2898,
"cds_start": 883,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387844.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647382.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Cys",
"transcript": "ENST00000426496.6",
"protein_id": "ENSP00000410219.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 2817,
"cds_start": 877,
"cds_end": null,
"cds_length": 8454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426496.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "ENST00000367742.7",
"protein_id": "ENSP00000356716.3",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 2819,
"cds_start": 883,
"cds_end": null,
"cds_length": 8460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367742.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Cys",
"transcript": "NM_015172.4",
"protein_id": "NP_055987.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 2817,
"cds_start": 877,
"cds_end": null,
"cds_length": 8454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015172.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Cys",
"transcript": "ENST00000338920.8",
"protein_id": "ENSP00000343629.4",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 2817,
"cds_start": 877,
"cds_end": null,
"cds_length": 8454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338920.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245015.3",
"protein_id": "XP_005245072.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2903,
"cds_start": 883,
"cds_end": null,
"cds_length": 8712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245015.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Cys",
"transcript": "XM_005245016.6",
"protein_id": "XP_005245073.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 2901,
"cds_start": 877,
"cds_end": null,
"cds_length": 8706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245016.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Cys",
"transcript": "XM_005245018.4",
"protein_id": "XP_005245075.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 2898,
"cds_start": 868,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245018.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Cys",
"transcript": "XM_006711238.5",
"protein_id": "XP_006711301.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 2896,
"cds_start": 877,
"cds_end": null,
"cds_length": 8691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711238.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "XM_017000760.3",
"protein_id": "XP_016856249.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 2896,
"cds_start": 862,
"cds_end": null,
"cds_length": 8691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000760.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245020.3",
"protein_id": "XP_005245077.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2858,
"cds_start": 883,
"cds_end": null,
"cds_length": 8577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245020.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_017000761.2",
"protein_id": "XP_016856250.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2853,
"cds_start": 883,
"cds_end": null,
"cds_length": 8562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000761.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245023.3",
"protein_id": "XP_005245080.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2824,
"cds_start": 883,
"cds_end": null,
"cds_length": 8475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245023.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245024.3",
"protein_id": "XP_005245081.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2819,
"cds_start": 883,
"cds_end": null,
"cds_length": 8460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245024.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245025.3",
"protein_id": "XP_005245082.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2779,
"cds_start": 883,
"cds_end": null,
"cds_length": 8340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245025.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245026.3",
"protein_id": "XP_005245083.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2774,
"cds_start": 883,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245026.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245027.3",
"protein_id": "XP_005245084.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2719,
"cds_start": 883,
"cds_end": null,
"cds_length": 8160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245027.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245028.3",
"protein_id": "XP_005245085.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2718,
"cds_start": 883,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245028.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_005245029.3",
"protein_id": "XP_005245086.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2714,
"cds_start": 883,
"cds_end": null,
"cds_length": 8145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245029.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_047415746.1",
"protein_id": "XP_047271702.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2713,
"cds_start": 883,
"cds_end": null,
"cds_length": 8142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415746.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "XM_047415747.1",
"protein_id": "XP_047271703.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 2708,
"cds_start": 883,
"cds_end": null,
"cds_length": 8127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "n.1110C>T",
"hgvs_p": null,
"transcript": "ENST00000476522.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000476522.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "n.92C>T",
"hgvs_p": null,
"transcript": "ENST00000480806.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000480806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"hgvs_c": "n.-79C>T",
"hgvs_p": null,
"transcript": "ENST00000470689.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000470689.1"
}
],
"gene_symbol": "PRRC2C",
"gene_hgnc_id": 24903,
"dbsnp": "rs1673952220",
"frequency_reference_population": 0.0000013687793,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136878,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5340428352355957,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.9886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.387,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387844.1",
"gene_symbol": "PRRC2C",
"hgnc_id": 24903,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}