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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: 2-119611728-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=119611728&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 119611728,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001271049.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "NM_001271049.2",
"protein_id": "NP_001257978.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 840,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000413369.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271049.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "ENST00000413369.8",
"protein_id": "ENSP00000393222.2",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 840,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001271049.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413369.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000295220.10",
"protein_id": "ENSP00000295220.7",
"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": "nonsense_mediated_decay",
"feature": "ENST00000295220.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000295220.10",
"protein_id": "ENSP00000295220.7",
"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": "nonsense_mediated_decay",
"feature": "ENST00000295220.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "ENST00000881830.1",
"protein_id": "ENSP00000551889.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 840,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881830.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "ENST00000881831.1",
"protein_id": "ENSP00000551890.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 840,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881831.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"transcript": "ENST00000955800.1",
"protein_id": "ENSP00000625859.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 838,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955800.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "ENST00000955801.1",
"protein_id": "ENSP00000625860.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 809,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955801.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000881829.1",
"protein_id": "ENSP00000551888.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 726,
"cds_start": 955,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881829.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "ENST00000599827.1",
"protein_id": "ENSP00000471092.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 117,
"cds_start": 67,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599827.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "XM_017003550.2",
"protein_id": "XP_016859039.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 896,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003550.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "XM_017003551.2",
"protein_id": "XP_016859040.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 896,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003551.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "XM_017003552.2",
"protein_id": "XP_016859041.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 896,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003552.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "XM_017003553.3",
"protein_id": "XP_016859042.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 896,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003553.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "XM_006712353.4",
"protein_id": "XP_006712416.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 840,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712353.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277Cys",
"transcript": "XM_047443618.1",
"protein_id": "XP_047299574.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 740,
"cds_start": 829,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443618.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "XM_017003558.2",
"protein_id": "XP_016859047.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 665,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003558.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"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": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "XM_017003559.2",
"protein_id": "XP_016859048.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 611,
"cds_start": 442,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003559.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "c.1293C>T",
"hgvs_p": "p.Phe431Phe",
"transcript": "XM_047443619.1",
"protein_id": "XP_047299575.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 465,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.*1034C>T",
"hgvs_p": null,
"transcript": "ENST00000413057.6",
"protein_id": "ENSP00000391760.2",
"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": "ENST00000413057.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.518C>T",
"hgvs_p": null,
"transcript": "ENST00000597189.1",
"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": "ENST00000597189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.1551C>T",
"hgvs_p": null,
"transcript": "NR_073132.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_073132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.1305C>T",
"hgvs_p": null,
"transcript": "NR_073133.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_073133.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.1406C>T",
"hgvs_p": null,
"transcript": "XR_922883.4",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_922883.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"hgvs_c": "n.*1034C>T",
"hgvs_p": null,
"transcript": "ENST00000413057.6",
"protein_id": "ENSP00000391760.2",
"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": "ENST00000413057.6"
}
],
"gene_symbol": "CFAP221",
"gene_hgnc_id": 33720,
"dbsnp": "rs552536625",
"frequency_reference_population": 0.000014265937,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.000013014,
"gnomad_genomes_af": 0.0000262702,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2044958770275116,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3199999928474426,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.268,
"revel_prediction": "Benign",
"alphamissense_score": 0.0949,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.455,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001271049.2",
"gene_symbol": "CFAP221",
"hgnc_id": 33720,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}