← 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: 14-50757281-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50757281&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50757281,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000530997.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "NM_020921.4",
"protein_id": "NP_065972.4",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2133,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": "ENST00000530997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "ENST00000530997.7",
"protein_id": "ENSP00000436092.2",
"transcript_support_level": 5,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2133,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": "NM_020921.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "ENST00000382041.7",
"protein_id": "ENSP00000371472.3",
"transcript_support_level": 1,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2090,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6273,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "ENST00000382043.8",
"protein_id": "ENSP00000371474.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "ENST00000485005.2",
"protein_id": "ENSP00000431485.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1238,
"cds_start": -4,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "NM_182946.2",
"protein_id": "NP_891991.2",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2090,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6273,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "NM_182944.3",
"protein_id": "NP_891989.3",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2046,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "ENST00000453196.6",
"protein_id": "ENSP00000412391.1",
"transcript_support_level": 5,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2046,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 4013,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "ENST00000476352.5",
"protein_id": "ENSP00000432924.1",
"transcript_support_level": 5,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1989,
"cds_start": 3749,
"cds_end": null,
"cds_length": 5970,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 10225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2219T>C",
"hgvs_p": "p.Leu740Pro",
"transcript": "ENST00000389869.7",
"protein_id": "ENSP00000374519.3",
"transcript_support_level": 5,
"aa_start": 740,
"aa_end": null,
"aa_length": 1580,
"cds_start": 2219,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3839T>C",
"hgvs_p": "p.Leu1280Pro",
"transcript": "XM_024449622.2",
"protein_id": "XP_024305390.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 2163,
"cds_start": 3839,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 10424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "XM_047431431.1",
"protein_id": "XP_047287387.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2133,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 10334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3659T>C",
"hgvs_p": "p.Leu1220Pro",
"transcript": "XM_047431432.1",
"protein_id": "XP_047287388.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 2103,
"cds_start": 3659,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 10244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3839T>C",
"hgvs_p": "p.Leu1280Pro",
"transcript": "XM_047431433.1",
"protein_id": "XP_047287389.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 2091,
"cds_start": 3839,
"cds_end": null,
"cds_length": 6276,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 10208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3839T>C",
"hgvs_p": "p.Leu1280Pro",
"transcript": "XM_011536819.4",
"protein_id": "XP_011535121.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 2076,
"cds_start": 3839,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "XM_047431434.1",
"protein_id": "XP_047287390.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2061,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6186,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 10118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "XM_047431435.1",
"protein_id": "XP_047287391.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 2046,
"cds_start": 3749,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3839T>C",
"hgvs_p": "p.Leu1280Pro",
"transcript": "XM_047431436.1",
"protein_id": "XP_047287392.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 2019,
"cds_start": 3839,
"cds_end": null,
"cds_length": 6060,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro",
"transcript": "XM_047431437.1",
"protein_id": "XP_047287393.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1989,
"cds_start": 3749,
"cds_end": null,
"cds_length": 5970,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.3083T>C",
"hgvs_p": "p.Leu1028Pro",
"transcript": "XM_047431438.1",
"protein_id": "XP_047287394.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1911,
"cds_start": 3083,
"cds_end": null,
"cds_length": 5736,
"cdna_start": 3777,
"cdna_end": null,
"cdna_length": 10130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2993T>C",
"hgvs_p": "p.Leu998Pro",
"transcript": "XM_047431439.1",
"protein_id": "XP_047287395.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2993,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3687,
"cdna_end": null,
"cdna_length": 10040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "NM_016350.5",
"protein_id": "NP_057434.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "ENST00000324330.13",
"protein_id": "ENSP00000324210.10",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"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": -4,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*1204-2414T>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.*667-2414T>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "n.1734-2414T>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2490-2414T>C",
"hgvs_p": null,
"transcript": "XM_011536822.3",
"protein_id": "XP_011535124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1450,
"cds_start": -4,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431440.1",
"protein_id": "XP_047287396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1420,
"cds_start": -4,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431441.1",
"protein_id": "XP_047287397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1420,
"cds_start": -4,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2310-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431442.1",
"protein_id": "XP_047287398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1390,
"cds_start": -4,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2490-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431443.1",
"protein_id": "XP_047287399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1378,
"cds_start": -4,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2490-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431444.1",
"protein_id": "XP_047287400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1363,
"cds_start": -4,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431445.1",
"protein_id": "XP_047287401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1348,
"cds_start": -4,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431446.1",
"protein_id": "XP_047287402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1333,
"cds_start": -4,
"cds_end": null,
"cds_length": 4002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431447.1",
"protein_id": "XP_047287403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1333,
"cds_start": -4,
"cds_end": null,
"cds_length": 4002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2490-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431448.1",
"protein_id": "XP_047287404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2310-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431449.1",
"protein_id": "XP_047287405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431454.1",
"protein_id": "XP_047287410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1276,
"cds_start": -4,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.2400-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431451.1",
"protein_id": "XP_047287407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": -4,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.1734-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431450.1",
"protein_id": "XP_047287406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1198,
"cds_start": -4,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.1734-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431453.1",
"protein_id": "XP_047287409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1198,
"cds_start": -4,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"hgvs_c": "c.1644-2414T>C",
"hgvs_p": null,
"transcript": "XM_047431452.1",
"protein_id": "XP_047287408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NIN",
"gene_hgnc_id": 14906,
"dbsnp": "rs896607535",
"frequency_reference_population": 0.000010533281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000410429,
"gnomad_genomes_af": 0.0000723465,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19508668780326843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.2523,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.092,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000530997.7",
"gene_symbol": "NIN",
"hgnc_id": 14906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3749T>C",
"hgvs_p": "p.Leu1250Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}