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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: 11-16789234-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=16789234&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 16789234,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001410960.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3219A>C",
"hgvs_p": "p.Ala1073Ala",
"transcript": "NM_001329630.2",
"protein_id": "NP_001316559.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000531066.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329630.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3219A>C",
"hgvs_p": "p.Ala1073Ala",
"transcript": "ENST00000531066.6",
"protein_id": "ENSP00000435389.1",
"transcript_support_level": 5,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001329630.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531066.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3219A>C",
"hgvs_p": "p.Ala1073Ala",
"transcript": "ENST00000355661.7",
"protein_id": "ENSP00000347883.2",
"transcript_support_level": 1,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355661.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.2112A>C",
"hgvs_p": "p.Ala704Ala",
"transcript": "ENST00000530489.5",
"protein_id": "ENSP00000433467.1",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 752,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530489.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "n.618A>C",
"hgvs_p": null,
"transcript": "ENST00000332954.8",
"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": "pseudogene",
"feature": "ENST00000332954.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3222A>C",
"hgvs_p": "p.Ala1074Ala",
"transcript": "NM_001410960.1",
"protein_id": "NP_001397889.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410960.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3222A>C",
"hgvs_p": "p.Ala1074Ala",
"transcript": "ENST00000698836.1",
"protein_id": "ENSP00000513972.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698836.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3222A>C",
"hgvs_p": "p.Ala1074Ala",
"transcript": "ENST00000917925.1",
"protein_id": "ENSP00000587984.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917925.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.2850A>C",
"hgvs_p": "p.Ala950Ala",
"transcript": "ENST00000637162.1",
"protein_id": "ENSP00000489780.1",
"transcript_support_level": 5,
"aa_start": 950,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637162.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3222A>C",
"hgvs_p": "p.Ala1074Ala",
"transcript": "NM_001329631.2",
"protein_id": "NP_001316560.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329631.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3219A>C",
"hgvs_p": "p.Ala1073Ala",
"transcript": "NM_175058.5",
"protein_id": "NP_778228.3",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175058.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3090A>C",
"hgvs_p": "p.Ala1030Ala",
"transcript": "ENST00000696749.1",
"protein_id": "ENSP00000512848.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1078,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696749.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.1437A>C",
"hgvs_p": "p.Ala479Ala",
"transcript": "ENST00000636113.1",
"protein_id": "ENSP00000490177.1",
"transcript_support_level": 5,
"aa_start": 479,
"aa_end": null,
"aa_length": 527,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636113.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Ala294Ala",
"transcript": "ENST00000636090.1",
"protein_id": "ENSP00000490167.1",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 518,
"cds_start": 882,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636090.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3423A>C",
"hgvs_p": "p.Ala1141Ala",
"transcript": "XM_047426426.1",
"protein_id": "XP_047282382.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3423,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426426.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3420A>C",
"hgvs_p": "p.Ala1140Ala",
"transcript": "XM_024448357.2",
"protein_id": "XP_024304125.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3420,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448357.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3423A>C",
"hgvs_p": "p.Ala1141Ala",
"transcript": "XM_024448358.2",
"protein_id": "XP_024304126.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3423,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448358.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3342A>C",
"hgvs_p": "p.Ala1114Ala",
"transcript": "XM_047426427.1",
"protein_id": "XP_047282383.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3342,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426427.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3303A>C",
"hgvs_p": "p.Ala1101Ala",
"transcript": "XM_047426428.1",
"protein_id": "XP_047282384.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3303,
"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": "XM_047426428.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3294A>C",
"hgvs_p": "p.Ala1098Ala",
"transcript": "XM_047426433.1",
"protein_id": "XP_047282389.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426433.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3285A>C",
"hgvs_p": "p.Ala1095Ala",
"transcript": "XM_024448361.2",
"protein_id": "XP_024304129.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448361.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.3342A>C",
"hgvs_p": "p.Ala1114Ala",
"transcript": "XM_047426429.1",
"protein_id": "XP_047282385.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1312,
"cds_start": 3342,
"cds_end": null,
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{
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{
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},
{
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},
{
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],
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},
{
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],
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},
{
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"consequences": [
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],
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"biotype": "pseudogene",
"feature": "ENST00000533901.1"
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{
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],
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"gene_symbol": "PLEKHA7",
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"feature": "XR_007062454.1"
},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "PLEKHA7",
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"hgvs_c": "n.*34A>C",
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"transcript": "ENST00000533251.1",
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"biotype": "retained_intron",
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],
"gene_symbol": "PLEKHA7",
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"dbsnp": "rs756792088",
"frequency_reference_population": 0.0000037182092,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342119,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.811,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001410960.1",
"gene_symbol": "PLEKHA7",
"hgnc_id": 27049,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3222A>C",
"hgvs_p": "p.Ala1074Ala"
}
],
"clinvar_disease": "PLEKHA7-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PLEKHA7-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}