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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: 17-4539513-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4539513&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4539513,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001105538.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3889C>T",
"hgvs_p": "p.Arg1297Trp",
"transcript": "NM_014520.4",
"protein_id": "NP_055335.2",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3889,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254718.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014520.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3889C>T",
"hgvs_p": "p.Arg1297Trp",
"transcript": "ENST00000254718.9",
"protein_id": "ENSP00000254718.4",
"transcript_support_level": 1,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3889,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014520.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254718.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3646C>T",
"hgvs_p": "p.Arg1216Trp",
"transcript": "ENST00000573116.5",
"protein_id": "ENSP00000458919.1",
"transcript_support_level": 1,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3646,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573116.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "n.1457C>T",
"hgvs_p": null,
"transcript": "ENST00000574547.5",
"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": "ENST00000574547.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000932213.1",
"protein_id": "ENSP00000602272.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932213.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3889C>T",
"hgvs_p": "p.Arg1297Trp",
"transcript": "NM_001105538.2",
"protein_id": "NP_001099008.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3889,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105538.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3889C>T",
"hgvs_p": "p.Arg1297Trp",
"transcript": "ENST00000381556.6",
"protein_id": "ENSP00000370968.2",
"transcript_support_level": 5,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3889,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381556.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3880C>T",
"hgvs_p": "p.Arg1294Trp",
"transcript": "ENST00000932210.1",
"protein_id": "ENSP00000602269.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3880,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932210.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3877C>T",
"hgvs_p": "p.Arg1293Trp",
"transcript": "ENST00000896004.1",
"protein_id": "ENSP00000566063.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3877,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896004.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3859C>T",
"hgvs_p": "p.Arg1287Trp",
"transcript": "ENST00000932217.1",
"protein_id": "ENSP00000602276.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3859,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932217.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283Trp",
"transcript": "ENST00000932211.1",
"protein_id": "ENSP00000602270.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3847,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932211.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3820C>T",
"hgvs_p": "p.Arg1274Trp",
"transcript": "ENST00000896005.1",
"protein_id": "ENSP00000566064.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3820,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896005.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3820C>T",
"hgvs_p": "p.Arg1274Trp",
"transcript": "ENST00000932214.1",
"protein_id": "ENSP00000602273.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3820,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932214.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3802C>T",
"hgvs_p": "p.Arg1268Trp",
"transcript": "ENST00000932212.1",
"protein_id": "ENSP00000602271.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3802,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932212.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Arg1261Trp",
"transcript": "ENST00000932215.1",
"protein_id": "ENSP00000602274.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3781,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932215.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3700C>T",
"hgvs_p": "p.Arg1234Trp",
"transcript": "ENST00000932216.1",
"protein_id": "ENSP00000602275.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3700,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932216.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3196C>T",
"hgvs_p": "p.Arg1066Trp",
"transcript": "ENST00000896003.1",
"protein_id": "ENSP00000566062.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896003.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Trp",
"transcript": "ENST00000573723.1",
"protein_id": "ENSP00000459692.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 202,
"cds_start": 505,
"cds_end": null,
"cds_length": 611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573723.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.3133C>T",
"hgvs_p": "p.Arg1045Trp",
"transcript": "XM_011523616.3",
"protein_id": "XP_011521918.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523616.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.*389C>T",
"hgvs_p": null,
"transcript": "XM_024450536.2",
"protein_id": "XP_024306304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": null,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450536.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "n.1384C>T",
"hgvs_p": null,
"transcript": "ENST00000571368.5",
"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": "retained_intron",
"feature": "ENST00000571368.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "n.672C>T",
"hgvs_p": null,
"transcript": "ENST00000574167.1",
"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": "retained_intron",
"feature": "ENST00000574167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "n.1334C>T",
"hgvs_p": null,
"transcript": "ENST00000574934.5",
"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": "retained_intron",
"feature": "ENST00000574934.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.*389C>T",
"hgvs_p": null,
"transcript": "ENST00000572759.1",
"protein_id": "ENSP00000460087.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572759.1"
}
],
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"dbsnp": "rs139632940",
"frequency_reference_population": 0.000048949325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000478837,
"gnomad_genomes_af": 0.0000591949,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0994131863117218,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1361,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.323,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001105538.2",
"gene_symbol": "MYBBP1A",
"hgnc_id": 7546,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3889C>T",
"hgvs_p": "p.Arg1297Trp"
}
],
"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
}