← 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: 15-81273186-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=81273186&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 81273186,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001352686.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "NM_172217.5",
"protein_id": "NP_757366.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1332,
"cds_start": 772,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683961.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172217.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "ENST00000683961.1",
"protein_id": "ENSP00000508085.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1332,
"cds_start": 772,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172217.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683961.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Asp305Asn",
"transcript": "ENST00000302987.10",
"protein_id": "ENSP00000302935.5",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 1378,
"cds_start": 913,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302987.10"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "NM_001352686.2",
"protein_id": "NP_001339615.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1382,
"cds_start": 925,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352686.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Asp305Asn",
"transcript": "NM_001438661.1",
"protein_id": "NP_001425590.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1379,
"cds_start": 913,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438661.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "ENST00000909975.1",
"protein_id": "ENSP00000580034.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1332,
"cds_start": 772,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909975.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "NM_001172128.2",
"protein_id": "NP_001165599.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1331,
"cds_start": 772,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172128.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "ENST00000394660.6",
"protein_id": "ENSP00000378155.2",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 1331,
"cds_start": 772,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394660.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "ENST00000706926.1",
"protein_id": "ENSP00000516648.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1331,
"cds_start": 772,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706926.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "ENST00000909976.1",
"protein_id": "ENSP00000580035.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1247,
"cds_start": 520,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909976.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Asp88Asn",
"transcript": "NM_001352685.2",
"protein_id": "NP_001339614.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1161,
"cds_start": 262,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352685.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "ENST00000559383.5",
"protein_id": "ENSP00000453250.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 593,
"cds_start": 772,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559383.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Asp322Asn",
"transcript": "XM_047432447.1",
"protein_id": "XP_047288403.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1396,
"cds_start": 964,
"cds_end": null,
"cds_length": 4191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432447.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Asp322Asn",
"transcript": "XM_047432448.1",
"protein_id": "XP_047288404.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1395,
"cds_start": 964,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432448.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Asp305Asn",
"transcript": "XM_047432450.1",
"protein_id": "XP_047288406.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1378,
"cds_start": 913,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432450.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Asp322Asn",
"transcript": "XM_047432451.1",
"protein_id": "XP_047288407.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1335,
"cds_start": 964,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432451.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Asp322Asn",
"transcript": "XM_047432452.1",
"protein_id": "XP_047288408.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1334,
"cds_start": 964,
"cds_end": null,
"cds_length": 4005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432452.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Asp258Asn",
"transcript": "XM_047432453.1",
"protein_id": "XP_047288409.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1332,
"cds_start": 772,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432453.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Asp88Asn",
"transcript": "XM_047432454.1",
"protein_id": "XP_047288410.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1162,
"cds_start": 262,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432454.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Asp322Asn",
"transcript": "XM_047432455.1",
"protein_id": "XP_047288411.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 762,
"cds_start": 964,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432455.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Asp322Asn",
"transcript": "XM_047432458.1",
"protein_id": "XP_047288414.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 714,
"cds_start": 964,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.-1248G>A",
"hgvs_p": null,
"transcript": "NM_001352684.2",
"protein_id": "NP_001339613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352684.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.772G>A",
"hgvs_p": null,
"transcript": "ENST00000360547.9",
"protein_id": "ENSP00000456972.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000360547.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.772G>A",
"hgvs_p": null,
"transcript": "ENST00000560241.5",
"protein_id": "ENSP00000452738.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560241.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "n.1147G>A",
"hgvs_p": null,
"transcript": "NR_148035.2",
"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_148035.2"
}
],
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"dbsnp": "rs188062582",
"frequency_reference_population": 0.000037221165,
"hom_count_reference_population": 1,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000383618,
"gnomad_genomes_af": 0.0000262809,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6441487073898315,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8653,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.439,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001352686.2",
"gene_symbol": "IL16",
"hgnc_id": 5980,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}