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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: 17-4539761-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4539761&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4539761,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001105538.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"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.3641A>G",
"hgvs_p": "p.Asn1214Ser",
"transcript": "NM_014520.4",
"protein_id": "NP_055335.2",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": "ENST00000254718.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014520.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3641A>G",
"hgvs_p": "p.Asn1214Ser",
"transcript": "ENST00000254718.9",
"protein_id": "ENSP00000254718.4",
"transcript_support_level": 1,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": "NM_014520.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254718.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3398A>G",
"hgvs_p": "p.Asn1133Ser",
"transcript": "ENST00000573116.5",
"protein_id": "ENSP00000458919.1",
"transcript_support_level": 1,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3399,
"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.1209A>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": "N",
"aa_alt": "S",
"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.3686A>G",
"hgvs_p": "p.Asn1229Ser",
"transcript": "ENST00000932213.1",
"protein_id": "ENSP00000602272.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 3745,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932213.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3641A>G",
"hgvs_p": "p.Asn1214Ser",
"transcript": "NM_001105538.2",
"protein_id": "NP_001099008.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105538.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3641A>G",
"hgvs_p": "p.Asn1214Ser",
"transcript": "ENST00000381556.6",
"protein_id": "ENSP00000370968.2",
"transcript_support_level": 5,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3703,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381556.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3632A>G",
"hgvs_p": "p.Asn1211Ser",
"transcript": "ENST00000932210.1",
"protein_id": "ENSP00000602269.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3632,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3692,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932210.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3629A>G",
"hgvs_p": "p.Asn1210Ser",
"transcript": "ENST00000896004.1",
"protein_id": "ENSP00000566063.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3629,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3663,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896004.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3611A>G",
"hgvs_p": "p.Asn1204Ser",
"transcript": "ENST00000932217.1",
"protein_id": "ENSP00000602276.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3670,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932217.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3599A>G",
"hgvs_p": "p.Asn1200Ser",
"transcript": "ENST00000932211.1",
"protein_id": "ENSP00000602270.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3659,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932211.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3572A>G",
"hgvs_p": "p.Asn1191Ser",
"transcript": "ENST00000896005.1",
"protein_id": "ENSP00000566064.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896005.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3572A>G",
"hgvs_p": "p.Asn1191Ser",
"transcript": "ENST00000932214.1",
"protein_id": "ENSP00000602273.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932214.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3554A>G",
"hgvs_p": "p.Asn1185Ser",
"transcript": "ENST00000932212.1",
"protein_id": "ENSP00000602271.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932212.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3533A>G",
"hgvs_p": "p.Asn1178Ser",
"transcript": "ENST00000932215.1",
"protein_id": "ENSP00000602274.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3554,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932215.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.3452A>G",
"hgvs_p": "p.Asn1151Ser",
"transcript": "ENST00000932216.1",
"protein_id": "ENSP00000602275.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3473,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932216.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.2948A>G",
"hgvs_p": "p.Asn983Ser",
"transcript": "ENST00000896003.1",
"protein_id": "ENSP00000566062.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2948,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3024,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896003.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.2885A>G",
"hgvs_p": "p.Asn962Ser",
"transcript": "XM_011523616.3",
"protein_id": "XP_011521918.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2993,
"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.*141A>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.*141A>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.397-140A>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.1136A>G",
"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": 1995,
"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.424A>G",
"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": 746,
"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.1086A>G",
"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": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574934.5"
}
],
"gene_symbol": "MYBBP1A",
"gene_hgnc_id": 7546,
"dbsnp": "rs1393516383",
"frequency_reference_population": 6.84518e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84518e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05213567614555359,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.0826,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.164,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001105538.2",
"gene_symbol": "MYBBP1A",
"hgnc_id": 7546,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3641A>G",
"hgvs_p": "p.Asn1214Ser"
}
],
"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
}