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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: 14-77429693-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77429693&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77429693,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000557658.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "NM_001193315.2",
"protein_id": "NP_001180244.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": "ENST00000557658.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "ENST00000557658.6",
"protein_id": "ENSP00000452191.1",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": "NM_001193315.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "ENST00000343765.6",
"protein_id": "ENSP00000339122.2",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1332T>C",
"hgvs_p": "p.Asn444Asn",
"transcript": "ENST00000556412.4",
"protein_id": "ENSP00000451857.1",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 519,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "NM_001193314.2",
"protein_id": "NP_001180243.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "NM_001193317.2",
"protein_id": "NP_001180246.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "NM_001400326.1",
"protein_id": "NP_001387255.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "NM_022067.4",
"protein_id": "NP_071350.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "ENST00000553888.5",
"protein_id": "ENSP00000452181.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 493,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1221T>C",
"hgvs_p": "p.Asn407Asn",
"transcript": "NM_001400327.1",
"protein_id": "NP_001387256.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 482,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1161T>C",
"hgvs_p": "p.Asn387Asn",
"transcript": "NM_001400333.1",
"protein_id": "NP_001387262.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 462,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1161T>C",
"hgvs_p": "p.Asn387Asn",
"transcript": "NM_001400334.1",
"protein_id": "NP_001387263.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 462,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn",
"transcript": "NM_001400335.1",
"protein_id": "NP_001387264.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 458,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1119T>C",
"hgvs_p": "p.Asn373Asn",
"transcript": "NM_001400336.1",
"protein_id": "NP_001387265.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 448,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1107T>C",
"hgvs_p": "p.Asn369Asn",
"transcript": "NM_001193316.2",
"protein_id": "NP_001180245.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 444,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1107T>C",
"hgvs_p": "p.Asn369Asn",
"transcript": "NM_001400324.1",
"protein_id": "NP_001387253.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 444,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1107T>C",
"hgvs_p": "p.Asn369Asn",
"transcript": "NM_001400325.1",
"protein_id": "NP_001387254.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 444,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1107T>C",
"hgvs_p": "p.Asn369Asn",
"transcript": "ENST00000327028.8",
"protein_id": "ENSP00000313098.5",
"transcript_support_level": 5,
"aa_start": 369,
"aa_end": null,
"aa_length": 444,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1107T>C",
"hgvs_p": "p.Asn369Asn",
"transcript": "ENST00000448935.6",
"protein_id": "ENSP00000404815.2",
"transcript_support_level": 2,
"aa_start": 369,
"aa_end": null,
"aa_length": 444,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Asn338Asn",
"transcript": "NM_001400337.1",
"protein_id": "NP_001387266.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 413,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.969T>C",
"hgvs_p": "p.Asn323Asn",
"transcript": "NM_001400339.1",
"protein_id": "NP_001387268.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 398,
"cds_start": 969,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "n.1454T>C",
"hgvs_p": null,
"transcript": "NR_174476.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1180-598T>C",
"hgvs_p": null,
"transcript": "NM_001400330.1",
"protein_id": "NP_001387259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1180-598T>C",
"hgvs_p": null,
"transcript": "NM_001400331.1",
"protein_id": "NP_001387260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1180-598T>C",
"hgvs_p": null,
"transcript": "NM_001400332.1",
"protein_id": "NP_001387261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.988-598T>C",
"hgvs_p": null,
"transcript": "NM_001400338.1",
"protein_id": "NP_001387267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"dbsnp": "rs188105111",
"frequency_reference_population": 0.00006009355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000581454,
"gnomad_genomes_af": 0.0000787929,
"gnomad_exomes_ac": 85,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.203,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000557658.6",
"gene_symbol": "VIPAS39",
"hgnc_id": 20347,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Asn418Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}