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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: 13-52076137-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52076137&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52076137,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365552.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys",
"transcript": "NM_001365552.1",
"protein_id": "NP_001352481.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 832,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684899.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365552.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys",
"transcript": "ENST00000684899.1",
"protein_id": "ENSP00000509632.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 832,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365552.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684899.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Glu552Lys",
"transcript": "ENST00000355568.8",
"protein_id": "ENSP00000347767.4",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 708,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355568.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Glu552Lys",
"transcript": "ENST00000647945.2",
"protein_id": "ENSP00000497892.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 857,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647945.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys",
"transcript": "ENST00000966558.1",
"protein_id": "ENSP00000636617.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 832,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966558.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Glu552Lys",
"transcript": "NM_199289.3",
"protein_id": "NP_954983.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 708,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199289.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Glu552Lys",
"transcript": "ENST00000617045.1",
"protein_id": "ENSP00000477810.1",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 708,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617045.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys",
"transcript": "ENST00000652119.1",
"protein_id": "ENSP00000498918.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 683,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652119.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "ENST00000966557.1",
"protein_id": "ENSP00000636616.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 681,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966557.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Glu599Lys",
"transcript": "XM_047430287.1",
"protein_id": "XP_047286243.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 904,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430287.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Glu599Lys",
"transcript": "XM_047430288.1",
"protein_id": "XP_047286244.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 903,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430288.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Glu584Lys",
"transcript": "XM_047430289.1",
"protein_id": "XP_047286245.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 889,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430289.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Glu599Lys",
"transcript": "XM_047430290.1",
"protein_id": "XP_047286246.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 881,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430290.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Glu568Lys",
"transcript": "XM_047430291.1",
"protein_id": "XP_047286247.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 873,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430291.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys",
"transcript": "XM_047430292.1",
"protein_id": "XP_047286248.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 832,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430292.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys",
"transcript": "XM_047430293.1",
"protein_id": "XP_047286249.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 790,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430293.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Glu448Lys",
"transcript": "XM_047430294.1",
"protein_id": "XP_047286250.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 753,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430294.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Glu599Lys",
"transcript": "XM_017020556.2",
"protein_id": "XP_016876045.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 737,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020556.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Glu599Lys",
"transcript": "XM_011535066.3",
"protein_id": "XP_011533368.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 697,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535066.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Glu387Lys",
"transcript": "XM_047430295.1",
"protein_id": "XP_047286251.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 692,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.1242G>A",
"hgvs_p": null,
"transcript": "ENST00000652502.1",
"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": "ENST00000652502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.1920G>A",
"hgvs_p": null,
"transcript": "XR_941574.3",
"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_941574.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.1920G>A",
"hgvs_p": null,
"transcript": "XR_941575.3",
"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_941575.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"hgvs_c": "n.*263-311G>A",
"hgvs_p": null,
"transcript": "ENST00000465811.7",
"protein_id": "ENSP00000431956.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000465811.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ALG11",
"gene_hgnc_id": 32456,
"hgvs_c": "n.45-2471C>T",
"hgvs_p": null,
"transcript": "ENST00000679495.1",
"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": "ENST00000679495.1"
}
],
"gene_symbol": "NEK5",
"gene_hgnc_id": 7748,
"dbsnp": "rs139136964",
"frequency_reference_population": 0.00045888306,
"hom_count_reference_population": 1,
"allele_count_reference_population": 724,
"gnomad_exomes_af": 0.000444744,
"gnomad_genomes_af": 0.000591304,
"gnomad_exomes_ac": 634,
"gnomad_genomes_ac": 90,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012436509132385254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.1162,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.496,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001365552.1",
"gene_symbol": "NEK5",
"hgnc_id": 7748,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Glu527Lys"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000679495.1",
"gene_symbol": "ALG11",
"hgnc_id": 32456,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.45-2471C>T",
"hgvs_p": null
}
],
"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
}