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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: 17-74440230-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74440230&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74440230,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438839.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_022036.4",
"protein_id": "NP_071319.3",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392627.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022036.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000392627.7",
"protein_id": "ENSP00000376403.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022036.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392627.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000392629.3",
"protein_id": "ENSP00000376405.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392629.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.270+184C>T",
"hgvs_p": null,
"transcript": "ENST00000481232.2",
"protein_id": "ENSP00000462147.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481232.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877275.1",
"protein_id": "ENSP00000547334.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 492,
"cds_start": 454,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877275.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"transcript": "ENST00000652232.1",
"protein_id": "ENSP00000499092.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 486,
"cds_start": 589,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652232.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877274.1",
"protein_id": "ENSP00000547333.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 470,
"cds_start": 454,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877274.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "ENST00000652294.1",
"protein_id": "ENSP00000498839.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 453,
"cds_start": 490,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652294.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_001438839.1",
"protein_id": "NP_001425768.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 451,
"cds_start": 454,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438839.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_001366261.2",
"protein_id": "NP_001353190.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 442,
"cds_start": 454,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366261.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000392628.7",
"protein_id": "ENSP00000376404.3",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 442,
"cds_start": 454,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392628.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_001366262.2",
"protein_id": "NP_001353191.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366262.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_018653.5",
"protein_id": "NP_061123.4",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018653.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877273.1",
"protein_id": "ENSP00000547332.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877273.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877276.1",
"protein_id": "ENSP00000547335.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877276.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877277.1",
"protein_id": "ENSP00000547336.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877277.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877278.1",
"protein_id": "ENSP00000547337.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877278.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000877279.1",
"protein_id": "ENSP00000547338.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877279.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000960002.1",
"protein_id": "ENSP00000630061.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 441,
"cds_start": 454,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960002.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"transcript": "ENST00000581590.1",
"protein_id": "ENSP00000463090.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 354,
"cds_start": 334,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581590.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000960003.1",
"protein_id": "ENSP00000630062.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 329,
"cds_start": 454,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960003.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Trp",
"transcript": "XM_047436398.1",
"protein_id": "XP_047292354.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 551,
"cds_start": 754,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436398.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "XM_047436400.1",
"protein_id": "XP_047292356.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 442,
"cds_start": 454,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436400.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.-39-453C>T",
"hgvs_p": null,
"transcript": "ENST00000342648.9",
"protein_id": "ENSP00000340595.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342648.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"hgvs_c": "c.*18C>T",
"hgvs_p": null,
"transcript": "ENST00000582444.1",
"protein_id": "ENSP00000463813.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582444.1"
}
],
"gene_symbol": "GPRC5C",
"gene_hgnc_id": 13309,
"dbsnp": "rs1229179337",
"frequency_reference_population": 0.000014365025,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.000014365,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8073868751525879,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.592,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1209,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.237,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438839.1",
"gene_symbol": "GPRC5C",
"hgnc_id": 13309,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp"
}
],
"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
}