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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: 17-74440411-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74440411&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74440411,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001438839.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "NM_022036.4",
"protein_id": "NP_071319.3",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000392627.7",
"protein_id": "ENSP00000376403.2",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000392629.3",
"protein_id": "ENSP00000376405.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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+365C>G",
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877275.1",
"protein_id": "ENSP00000547334.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 492,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.770C>G",
"hgvs_p": "p.Ala257Gly",
"transcript": "ENST00000652232.1",
"protein_id": "ENSP00000499092.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 486,
"cds_start": 770,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877274.1",
"protein_id": "ENSP00000547333.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 470,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.671C>G",
"hgvs_p": "p.Ala224Gly",
"transcript": "ENST00000652294.1",
"protein_id": "ENSP00000498839.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 453,
"cds_start": 671,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "NM_001438839.1",
"protein_id": "NP_001425768.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 451,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "NM_001366261.2",
"protein_id": "NP_001353190.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 442,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000392628.7",
"protein_id": "ENSP00000376404.3",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 442,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "NM_001366262.2",
"protein_id": "NP_001353191.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "NM_018653.5",
"protein_id": "NP_061123.4",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877273.1",
"protein_id": "ENSP00000547332.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877276.1",
"protein_id": "ENSP00000547335.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877277.1",
"protein_id": "ENSP00000547336.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877278.1",
"protein_id": "ENSP00000547337.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000877279.1",
"protein_id": "ENSP00000547338.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000960002.1",
"protein_id": "ENSP00000630061.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 441,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.515C>G",
"hgvs_p": "p.Ala172Gly",
"transcript": "ENST00000581590.1",
"protein_id": "ENSP00000463090.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 354,
"cds_start": 515,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000960003.1",
"protein_id": "ENSP00000630062.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 329,
"cds_start": 635,
"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": "A",
"aa_alt": "G",
"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.935C>G",
"hgvs_p": "p.Ala312Gly",
"transcript": "XM_047436398.1",
"protein_id": "XP_047292354.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 551,
"cds_start": 935,
"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": "A",
"aa_alt": "G",
"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.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "XM_047436400.1",
"protein_id": "XP_047292356.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 442,
"cds_start": 635,
"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.-39-272C>G",
"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.*199C>G",
"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": "rs2055513324",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6853424310684204,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.645,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2265,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.947,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001438839.1",
"gene_symbol": "GPRC5C",
"hgnc_id": 13309,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Ala212Gly"
}
],
"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
}