← 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: 20-25453185-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25453185&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25453185,
"ref": "A",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000278886.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "NM_025176.6",
"protein_id": "NP_079452.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1382,
"cds_start": -4,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "ENST00000278886.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "ENST00000278886.11",
"protein_id": "ENSP00000278886.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1382,
"cds_start": -4,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "NM_025176.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "n.1166T>A",
"hgvs_p": null,
"transcript": "ENST00000464285.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "n.1009T>A",
"hgvs_p": null,
"transcript": "ENST00000706718.1",
"protein_id": null,
"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": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "n.1652T>A",
"hgvs_p": null,
"transcript": "ENST00000706719.1",
"protein_id": null,
"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": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "NM_001318226.2",
"protein_id": "NP_001305155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1033,
"cds_start": -4,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "ENST00000336104.6",
"protein_id": "ENSP00000338621.6",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": -4,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529186.3",
"protein_id": "XP_011527488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1470,
"cds_start": -4,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529187.3",
"protein_id": "XP_011527489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1465,
"cds_start": -4,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440019.1",
"protein_id": "XP_047295975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": -4,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440020.1",
"protein_id": "XP_047295976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1456,
"cds_start": -4,
"cds_end": null,
"cds_length": 4371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529188.1",
"protein_id": "XP_011527490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529189.2",
"protein_id": "XP_011527491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440021.1",
"protein_id": "XP_047295977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": -4,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440023.1",
"protein_id": "XP_047295979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": -4,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440022.1",
"protein_id": "XP_047295978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440024.1",
"protein_id": "XP_047295980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1398,
"cds_start": -4,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440025.1",
"protein_id": "XP_047295981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1394,
"cds_start": -4,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440026.1",
"protein_id": "XP_047295982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1389,
"cds_start": -4,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440027.1",
"protein_id": "XP_047295983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1387,
"cds_start": -4,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529191.1",
"protein_id": "XP_011527493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440028.1",
"protein_id": "XP_047295984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1290,
"cds_start": -4,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440029.1",
"protein_id": "XP_047295985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440030.1",
"protein_id": "XP_047295986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": -4,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529192.3",
"protein_id": "XP_011527494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1082,
"cds_start": -4,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440031.1",
"protein_id": "XP_047295987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": -4,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440032.1",
"protein_id": "XP_047295988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440033.1",
"protein_id": "XP_047295989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1038,
"cds_start": -4,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529194.3",
"protein_id": "XP_011527496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": -4,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529195.3",
"protein_id": "XP_011527497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440034.1",
"protein_id": "XP_047295990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_047440035.1",
"protein_id": "XP_047295991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_017027735.2",
"protein_id": "XP_016883224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"transcript": "XM_011529198.1",
"protein_id": "XP_011527500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NINL",
"gene_hgnc_id": 29163,
"dbsnp": "rs12428",
"frequency_reference_population": 0.0000065795534,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.0000456689,
"gnomad_genomes_af": 0.00000657955,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.839,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000278886.11",
"gene_symbol": "NINL",
"hgnc_id": 29163,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*266T>A",
"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
}