← 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: 14-50723610-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50723610&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50723610,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020921.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6255G>T",
"hgvs_p": "p.Leu2085Phe",
"transcript": "NM_020921.4",
"protein_id": "NP_065972.4",
"transcript_support_level": null,
"aa_start": 2085,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6255,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530997.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020921.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6255G>T",
"hgvs_p": "p.Leu2085Phe",
"transcript": "ENST00000530997.7",
"protein_id": "ENSP00000436092.2",
"transcript_support_level": 5,
"aa_start": 2085,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6255,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020921.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530997.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6255G>T",
"hgvs_p": "p.Leu2085Phe",
"transcript": "ENST00000914777.1",
"protein_id": "ENSP00000584836.1",
"transcript_support_level": null,
"aa_start": 2085,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6255,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914777.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6165G>T",
"hgvs_p": "p.Leu2055Phe",
"transcript": "ENST00000872465.1",
"protein_id": "ENSP00000542524.1",
"transcript_support_level": null,
"aa_start": 2055,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6165,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872465.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5949G>T",
"hgvs_p": "p.Leu1983Phe",
"transcript": "ENST00000965312.1",
"protein_id": "ENSP00000635371.1",
"transcript_support_level": null,
"aa_start": 1983,
"aa_end": null,
"aa_length": 2031,
"cds_start": 5949,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965312.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6345G>T",
"hgvs_p": "p.Leu2115Phe",
"transcript": "XM_024449622.2",
"protein_id": "XP_024305390.1",
"transcript_support_level": null,
"aa_start": 2115,
"aa_end": null,
"aa_length": 2163,
"cds_start": 6345,
"cds_end": null,
"cds_length": 6492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449622.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6255G>T",
"hgvs_p": "p.Leu2085Phe",
"transcript": "XM_047431431.1",
"protein_id": "XP_047287387.1",
"transcript_support_level": null,
"aa_start": 2085,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6255,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431431.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6165G>T",
"hgvs_p": "p.Leu2055Phe",
"transcript": "XM_047431432.1",
"protein_id": "XP_047287388.1",
"transcript_support_level": null,
"aa_start": 2055,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6165,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431432.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6129G>T",
"hgvs_p": "p.Leu2043Phe",
"transcript": "XM_047431433.1",
"protein_id": "XP_047287389.1",
"transcript_support_level": null,
"aa_start": 2043,
"aa_end": null,
"aa_length": 2091,
"cds_start": 6129,
"cds_end": null,
"cds_length": 6276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431433.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.6039G>T",
"hgvs_p": "p.Leu2013Phe",
"transcript": "XM_047431434.1",
"protein_id": "XP_047287390.1",
"transcript_support_level": null,
"aa_start": 2013,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6039,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431434.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5589G>T",
"hgvs_p": "p.Leu1863Phe",
"transcript": "XM_047431438.1",
"protein_id": "XP_047287394.1",
"transcript_support_level": null,
"aa_start": 1863,
"aa_end": null,
"aa_length": 1911,
"cds_start": 5589,
"cds_end": null,
"cds_length": 5736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431438.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.5499G>T",
"hgvs_p": "p.Leu1833Phe",
"transcript": "XM_047431439.1",
"protein_id": "XP_047287395.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1881,
"cds_start": 5499,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431439.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4206G>T",
"hgvs_p": "p.Leu1402Phe",
"transcript": "XM_011536822.3",
"protein_id": "XP_011535124.1",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4206,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536822.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4116G>T",
"hgvs_p": "p.Leu1372Phe",
"transcript": "XM_047431440.1",
"protein_id": "XP_047287396.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4116,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431440.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4116G>T",
"hgvs_p": "p.Leu1372Phe",
"transcript": "XM_047431441.1",
"protein_id": "XP_047287397.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4116,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431441.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.4026G>T",
"hgvs_p": "p.Leu1342Phe",
"transcript": "XM_047431442.1",
"protein_id": "XP_047287398.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4026,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431442.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3990G>T",
"hgvs_p": "p.Leu1330Phe",
"transcript": "XM_047431443.1",
"protein_id": "XP_047287399.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3990,
"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_047431443.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3900G>T",
"hgvs_p": "p.Leu1300Phe",
"transcript": "XM_047431445.1",
"protein_id": "XP_047287401.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3900,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431445.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3450G>T",
"hgvs_p": "p.Leu1150Phe",
"transcript": "XM_047431450.1",
"protein_id": "XP_047287406.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431450.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3450G>T",
"hgvs_p": "p.Leu1150Phe",
"transcript": "XM_047431453.1",
"protein_id": "XP_047287409.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431453.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3360G>T",
"hgvs_p": "p.Leu1120Phe",
"transcript": "XM_047431452.1",
"protein_id": "XP_047287408.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.*346G>T",
"hgvs_p": null,
"transcript": "ENST00000476352.5",
"protein_id": "ENSP00000432924.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1989,
"cds_start": null,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476352.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.*346G>T",
"hgvs_p": null,
"transcript": "ENST00000706706.1",
"protein_id": "ENSP00000516509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706706.1"
},
{
"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": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.525G>T",
"hgvs_p": null,
"transcript": "ENST00000555984.1",
"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": "ENST00000555984.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*2981G>T",
"hgvs_p": null,
"transcript": "ENST00000673657.1",
"protein_id": "ENSP00000501199.1",
"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": "ENST00000673657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*2444G>T",
"hgvs_p": null,
"transcript": "ENST00000674030.1",
"protein_id": "ENSP00000501260.1",
"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": "ENST00000674030.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.783G>T",
"hgvs_p": null,
"transcript": "ENST00000706703.1",
"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": "retained_intron",
"feature": "ENST00000706703.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.2497G>T",
"hgvs_p": null,
"transcript": "ENST00000706704.1",
"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": "retained_intron",
"feature": "ENST00000706704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*1569G>T",
"hgvs_p": null,
"transcript": "ENST00000706705.1",
"protein_id": "ENSP00000516508.1",
"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": "ENST00000706705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*2981G>T",
"hgvs_p": null,
"transcript": "ENST00000673657.1",
"protein_id": "ENSP00000501199.1",
"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": "ENST00000673657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*2444G>T",
"hgvs_p": null,
"transcript": "ENST00000674030.1",
"protein_id": "ENSP00000501260.1",
"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": "ENST00000674030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*1569G>T",
"hgvs_p": null,
"transcript": "ENST00000706705.1",
"protein_id": "ENSP00000516508.1",
"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": "ENST00000706705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270062",
"gene_hgnc_id": null,
"hgvs_c": "n.*167G>T",
"hgvs_p": null,
"transcript": "ENST00000602615.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000602615.1"
}
],
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"dbsnp": "rs1271685627",
"frequency_reference_population": 6.841714e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84171e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4577139914035797,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": 0.7051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.969,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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_020921.4",
"gene_symbol": "NIN",
"hgnc_id": 14906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.6255G>T",
"hgvs_p": "p.Leu2085Phe"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000602615.1",
"gene_symbol": "ENSG00000270062",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*167G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}