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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: 8-51320848-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=51320848&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 51320848,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144651.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4196G>A",
"hgvs_p": "p.Arg1399Lys",
"transcript": "NM_144651.5",
"protein_id": "NP_653252.4",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4196,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356297.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144651.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4196G>A",
"hgvs_p": "p.Arg1399Lys",
"transcript": "ENST00000356297.5",
"protein_id": "ENSP00000348645.4",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4196,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144651.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356297.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4376G>A",
"hgvs_p": "p.Arg1459Lys",
"transcript": "ENST00000894552.1",
"protein_id": "ENSP00000564611.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4376,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894552.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4124G>A",
"hgvs_p": "p.Arg1375Lys",
"transcript": "ENST00000894549.1",
"protein_id": "ENSP00000564608.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894549.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4124G>A",
"hgvs_p": "p.Arg1375Lys",
"transcript": "ENST00000894551.1",
"protein_id": "ENSP00000564610.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894551.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4109G>A",
"hgvs_p": "p.Arg1370Lys",
"transcript": "ENST00000967845.1",
"protein_id": "ENSP00000637904.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1434,
"cds_start": 4109,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967845.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4037G>A",
"hgvs_p": "p.Arg1346Lys",
"transcript": "ENST00000967844.1",
"protein_id": "ENSP00000637903.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967844.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3929G>A",
"hgvs_p": "p.Arg1310Lys",
"transcript": "ENST00000894550.1",
"protein_id": "ENSP00000564609.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894550.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3908G>A",
"hgvs_p": "p.Arg1303Lys",
"transcript": "ENST00000894548.1",
"protein_id": "ENSP00000564607.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3908,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894548.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3836G>A",
"hgvs_p": "p.Arg1279Lys",
"transcript": "ENST00000967847.1",
"protein_id": "ENSP00000637906.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3836,
"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": "ENST00000967847.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3749G>A",
"hgvs_p": "p.Arg1250Lys",
"transcript": "ENST00000967846.1",
"protein_id": "ENSP00000637905.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3749,
"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": "ENST00000967846.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Arg697Lys",
"transcript": "ENST00000967843.1",
"protein_id": "ENSP00000637902.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 761,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967843.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Lys",
"transcript": "ENST00000522933.5",
"protein_id": "ENSP00000428114.1",
"transcript_support_level": 5,
"aa_start": 472,
"aa_end": null,
"aa_length": 536,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522933.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4124G>A",
"hgvs_p": "p.Arg1375Lys",
"transcript": "XM_047421364.1",
"protein_id": "XP_047277320.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421364.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.4124G>A",
"hgvs_p": "p.Arg1375Lys",
"transcript": "XM_047421365.1",
"protein_id": "XP_047277321.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4124,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421365.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3908G>A",
"hgvs_p": "p.Arg1303Lys",
"transcript": "XM_047421366.1",
"protein_id": "XP_047277322.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3908,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421366.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Arg1264Lys",
"transcript": "XM_011517458.3",
"protein_id": "XP_011515760.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3791,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517458.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Arg1264Lys",
"transcript": "XM_017013041.2",
"protein_id": "XP_016868530.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3791,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013041.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Arg1264Lys",
"transcript": "XM_047421367.1",
"protein_id": "XP_047277323.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3791,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421367.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784Lys",
"transcript": "XM_005251168.4",
"protein_id": "XP_005251225.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 848,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251168.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "n.612G>A",
"hgvs_p": null,
"transcript": "ENST00000519183.1",
"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": "ENST00000519183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253664",
"gene_hgnc_id": null,
"hgvs_c": "n.249C>T",
"hgvs_p": null,
"transcript": "ENST00000521294.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521294.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
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"hgvs_c": "n.1749G>A",
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"transcript": "ENST00000522628.5",
"protein_id": "ENSP00000429855.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "n.4052G>A",
"hgvs_p": null,
"transcript": "XR_007060701.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007060701.1"
}
],
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"dbsnp": "rs7827446",
"frequency_reference_population": 0.2706994,
"hom_count_reference_population": 63624,
"allele_count_reference_population": 436597,
"gnomad_exomes_af": 0.263556,
"gnomad_genomes_af": 0.339327,
"gnomad_exomes_ac": 384999,
"gnomad_genomes_ac": 51598,
"gnomad_exomes_homalt": 53220,
"gnomad_genomes_homalt": 10404,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00007408999226754531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.106,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_144651.5",
"gene_symbol": "PXDNL",
"hgnc_id": 26359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4196G>A",
"hgvs_p": "p.Arg1399Lys"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000521294.1",
"gene_symbol": "ENSG00000253664",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.249C>T",
"hgvs_p": null
}
],
"clinvar_disease": "PXDNL-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PXDNL-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}