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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: 22-44732356-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44732356&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 44732356,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198721.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Pro174Ser",
"transcript": "NM_181333.4",
"protein_id": "NP_851850.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 388,
"cds_start": 520,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336985.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181333.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Pro174Ser",
"transcript": "ENST00000336985.11",
"protein_id": "ENSP00000337464.6",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 388,
"cds_start": 520,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181333.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336985.11"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Pro174Ser",
"transcript": "ENST00000352766.11",
"protein_id": "ENSP00000262731.11",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 643,
"cds_start": 520,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352766.11"
},
{
"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": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.1044C>T",
"hgvs_p": null,
"transcript": "ENST00000495017.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495017.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Pro197Ser",
"transcript": "NM_001198721.2",
"protein_id": "NP_001185650.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 411,
"cds_start": 589,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198721.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Pro197Ser",
"transcript": "ENST00000403581.5",
"protein_id": "ENSP00000384848.1",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 411,
"cds_start": 589,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403581.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Pro165Ser",
"transcript": "NM_001017528.3",
"protein_id": "NP_001017528.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 379,
"cds_start": 493,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017528.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Pro165Ser",
"transcript": "NM_015366.4",
"protein_id": "NP_056181.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 379,
"cds_start": 493,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015366.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Pro165Ser",
"transcript": "ENST00000006251.11",
"protein_id": "ENSP00000006251.7",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 379,
"cds_start": 493,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000006251.11"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Pro165Ser",
"transcript": "ENST00000432186.6",
"protein_id": "ENSP00000400925.2",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 379,
"cds_start": 493,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432186.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"transcript": "NM_001017529.3",
"protein_id": "NP_001017529.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 293,
"cds_start": 235,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017529.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"transcript": "NM_001017530.2",
"protein_id": "NP_001017530.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 293,
"cds_start": 235,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017530.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"transcript": "ENST00000492475.6",
"protein_id": "ENSP00000520433.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 293,
"cds_start": 235,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492475.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"transcript": "ENST00000617066.4",
"protein_id": "ENSP00000479623.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 293,
"cds_start": 235,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617066.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Pro165Ser",
"transcript": "ENST00000457960.5",
"protein_id": "ENSP00000410215.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 225,
"cds_start": 493,
"cds_end": null,
"cds_length": 679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457960.5"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.322+5722C>T",
"hgvs_p": null,
"transcript": "NM_181334.6",
"protein_id": "NP_851851.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": null,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181334.6"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.322+5722C>T",
"hgvs_p": null,
"transcript": "ENST00000361473.9",
"protein_id": "ENSP00000354732.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": null,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361473.9"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "c.88+5722C>T",
"hgvs_p": null,
"transcript": "ENST00000515632.2",
"protein_id": "ENSP00000425026.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515632.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.*146C>T",
"hgvs_p": null,
"transcript": "ENST00000431834.5",
"protein_id": "ENSP00000407637.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000431834.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.*146C>T",
"hgvs_p": null,
"transcript": "ENST00000432916.5",
"protein_id": "ENSP00000392026.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000432916.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.399C>T",
"hgvs_p": null,
"transcript": "ENST00000455389.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000455389.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.426C>T",
"hgvs_p": null,
"transcript": "ENST00000477331.5",
"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": "ENST00000477331.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.*146C>T",
"hgvs_p": null,
"transcript": "ENST00000431834.5",
"protein_id": "ENSP00000407637.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000431834.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "n.*146C>T",
"hgvs_p": null,
"transcript": "ENST00000432916.5",
"protein_id": "ENSP00000392026.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000432916.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRR5-ARHGAP8",
"gene_hgnc_id": 34512,
"hgvs_c": "n.105+5722C>T",
"hgvs_p": null,
"transcript": "ENST00000495250.2",
"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": "retained_intron",
"feature": "ENST00000495250.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000403696.5",
"protein_id": "ENSP00000384746.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403696.5"
}
],
"gene_symbol": "PRR5",
"gene_hgnc_id": 31682,
"dbsnp": "rs1922174068",
"frequency_reference_population": 0.0000034276813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342768,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7501521110534668,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.464,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.936,
"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": 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_001198721.2",
"gene_symbol": "PRR5",
"hgnc_id": 31682,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Pro197Ser"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000352766.11",
"gene_symbol": "PRR5-ARHGAP8",
"hgnc_id": 34512,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Pro174Ser"
}
],
"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
}