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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: 17-4539689-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4539689&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4539689,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001105538.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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.3713C>G",
"hgvs_p": "p.Pro1238Arg",
"transcript": "NM_014520.4",
"protein_id": "NP_055335.2",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3713,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": "ENST00000254718.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014520.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3713C>G",
"hgvs_p": "p.Pro1238Arg",
"transcript": "ENST00000254718.9",
"protein_id": "ENSP00000254718.4",
"transcript_support_level": 1,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3713,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": "NM_014520.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254718.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3470C>G",
"hgvs_p": "p.Pro1157Arg",
"transcript": "ENST00000573116.5",
"protein_id": "ENSP00000458919.1",
"transcript_support_level": 1,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 3795,
"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.1281C>G",
"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": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574547.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3758C>G",
"hgvs_p": "p.Pro1253Arg",
"transcript": "ENST00000932213.1",
"protein_id": "ENSP00000602272.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3758,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932213.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3713C>G",
"hgvs_p": "p.Pro1238Arg",
"transcript": "NM_001105538.2",
"protein_id": "NP_001099008.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3713,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105538.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3713C>G",
"hgvs_p": "p.Pro1238Arg",
"transcript": "ENST00000381556.6",
"protein_id": "ENSP00000370968.2",
"transcript_support_level": 5,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3713,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381556.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3704C>G",
"hgvs_p": "p.Pro1235Arg",
"transcript": "ENST00000932210.1",
"protein_id": "ENSP00000602269.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932210.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3701C>G",
"hgvs_p": "p.Pro1234Arg",
"transcript": "ENST00000896004.1",
"protein_id": "ENSP00000566063.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3735,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896004.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3683C>G",
"hgvs_p": "p.Pro1228Arg",
"transcript": "ENST00000932217.1",
"protein_id": "ENSP00000602276.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3683,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3742,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932217.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3671C>G",
"hgvs_p": "p.Pro1224Arg",
"transcript": "ENST00000932211.1",
"protein_id": "ENSP00000602270.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3671,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3731,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932211.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3644C>G",
"hgvs_p": "p.Pro1215Arg",
"transcript": "ENST00000896005.1",
"protein_id": "ENSP00000566064.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3644,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3674,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896005.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3644C>G",
"hgvs_p": "p.Pro1215Arg",
"transcript": "ENST00000932214.1",
"protein_id": "ENSP00000602273.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3644,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932214.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3626C>G",
"hgvs_p": "p.Pro1209Arg",
"transcript": "ENST00000932212.1",
"protein_id": "ENSP00000602271.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3685,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932212.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3605C>G",
"hgvs_p": "p.Pro1202Arg",
"transcript": "ENST00000932215.1",
"protein_id": "ENSP00000602274.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3605,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932215.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3524C>G",
"hgvs_p": "p.Pro1175Arg",
"transcript": "ENST00000932216.1",
"protein_id": "ENSP00000602275.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3524,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3545,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932216.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.3020C>G",
"hgvs_p": "p.Pro1007Arg",
"transcript": "ENST00000896003.1",
"protein_id": "ENSP00000566062.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3096,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896003.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.2957C>G",
"hgvs_p": "p.Pro986Arg",
"transcript": "XM_011523616.3",
"protein_id": "XP_011521918.1",
"transcript_support_level": null,
"aa_start": 986,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2957,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 3850,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.*213C>G",
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572759.1"
},
{
"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.*213C>G",
"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": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450536.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"hgvs_c": "c.397-68C>G",
"hgvs_p": null,
"transcript": "ENST00000573723.1",
"protein_id": "ENSP00000459692.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573723.1"
},
{
"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.1208C>G",
"hgvs_p": null,
"transcript": "ENST00000571368.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
"missense_variant"
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}