← Back to variant description
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: 2-15167112-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15167112&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 15167112,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015909.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.7052G>C",
"hgvs_p": "p.Arg2351Thr",
"transcript": "NM_015909.4",
"protein_id": "NP_056993.2",
"transcript_support_level": null,
"aa_start": 2351,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7052,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281513.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015909.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.7052G>C",
"hgvs_p": "p.Arg2351Thr",
"transcript": "ENST00000281513.10",
"protein_id": "ENSP00000281513.5",
"transcript_support_level": 1,
"aa_start": 2351,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7052,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015909.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281513.10"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.4193G>C",
"hgvs_p": "p.Arg1398Thr",
"transcript": "ENST00000442506.5",
"protein_id": "ENSP00000398411.1",
"transcript_support_level": 1,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4193,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442506.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6917G>C",
"hgvs_p": "p.Arg2306Thr",
"transcript": "ENST00000914564.1",
"protein_id": "ENSP00000584623.1",
"transcript_support_level": null,
"aa_start": 2306,
"aa_end": null,
"aa_length": 2326,
"cds_start": 6917,
"cds_end": null,
"cds_length": 6981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914564.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6734G>C",
"hgvs_p": "p.Arg2245Thr",
"transcript": "ENST00000914565.1",
"protein_id": "ENSP00000584624.1",
"transcript_support_level": null,
"aa_start": 2245,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6734,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914565.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.5198G>C",
"hgvs_p": "p.Arg1733Thr",
"transcript": "ENST00000957312.1",
"protein_id": "ENSP00000627371.1",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5198,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957312.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.5036G>C",
"hgvs_p": "p.Arg1679Thr",
"transcript": "ENST00000700061.1",
"protein_id": "ENSP00000514776.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5036,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700061.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.3956G>C",
"hgvs_p": "p.Arg1319Thr",
"transcript": "ENST00000901626.1",
"protein_id": "ENSP00000571685.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3956,
"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": "ENST00000901626.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1562G>C",
"hgvs_p": "p.Arg521Thr",
"transcript": "ENST00000700063.1",
"protein_id": "ENSP00000514778.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 541,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700063.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.491G>C",
"hgvs_p": "p.Arg164Thr",
"transcript": "ENST00000433283.5",
"protein_id": "ENSP00000390920.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 184,
"cds_start": 491,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433283.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6923G>C",
"hgvs_p": "p.Arg2308Thr",
"transcript": "XM_011510357.3",
"protein_id": "XP_011508659.1",
"transcript_support_level": null,
"aa_start": 2308,
"aa_end": null,
"aa_length": 2328,
"cds_start": 6923,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510357.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6923G>C",
"hgvs_p": "p.Arg2308Thr",
"transcript": "XM_011510358.3",
"protein_id": "XP_011508660.1",
"transcript_support_level": null,
"aa_start": 2308,
"aa_end": null,
"aa_length": 2328,
"cds_start": 6923,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510358.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6794G>C",
"hgvs_p": "p.Arg2265Thr",
"transcript": "XM_047444734.1",
"protein_id": "XP_047300690.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 2285,
"cds_start": 6794,
"cds_end": null,
"cds_length": 6858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444734.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6413G>C",
"hgvs_p": "p.Arg2138Thr",
"transcript": "XM_047444735.1",
"protein_id": "XP_047300691.1",
"transcript_support_level": null,
"aa_start": 2138,
"aa_end": null,
"aa_length": 2158,
"cds_start": 6413,
"cds_end": null,
"cds_length": 6477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444735.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.4853G>C",
"hgvs_p": "p.Arg1618Thr",
"transcript": "XM_011510360.3",
"protein_id": "XP_011508662.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4853,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510360.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.4844G>C",
"hgvs_p": "p.Arg1615Thr",
"transcript": "XM_011510361.3",
"protein_id": "XP_011508663.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4844,
"cds_end": null,
"cds_length": 4908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510361.3"
},
{
"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": 53,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6840+11876G>C",
"hgvs_p": null,
"transcript": "XM_017004317.2",
"protein_id": "XP_016859806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2293,
"cds_start": null,
"cds_end": null,
"cds_length": 6882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004317.2"
},
{
"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": 53,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6840+11876G>C",
"hgvs_p": null,
"transcript": "XM_047444733.1",
"protein_id": "XP_047300689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2293,
"cds_start": null,
"cds_end": null,
"cds_length": 6882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444733.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.1603G>C",
"hgvs_p": null,
"transcript": "ENST00000485694.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485694.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*616G>C",
"hgvs_p": null,
"transcript": "ENST00000700062.1",
"protein_id": "ENSP00000514777.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000700062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*352G>C",
"hgvs_p": null,
"transcript": "ENST00000700064.1",
"protein_id": "ENSP00000514779.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000700064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.6886G>C",
"hgvs_p": null,
"transcript": "NR_052013.3",
"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": "NR_052013.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*616G>C",
"hgvs_p": null,
"transcript": "ENST00000700062.1",
"protein_id": "ENSP00000514777.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000700062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*352G>C",
"hgvs_p": null,
"transcript": "ENST00000700064.1",
"protein_id": "ENSP00000514779.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000700064.1"
},
{
"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": 54,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.6870+11876G>C",
"hgvs_p": null,
"transcript": "XR_007076390.1",
"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_007076390.1"
}
],
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"dbsnp": null,
"frequency_reference_population": 0.0000013684983,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013685,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39738237857818604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.2018,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.268,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015909.4",
"gene_symbol": "NBAS",
"hgnc_id": 15625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7052G>C",
"hgvs_p": "p.Arg2351Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}