← 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: 1-19656882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19656882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19656882,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182744.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_005380.8",
"protein_id": "NP_005371.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375136.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005380.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000375136.8",
"protein_id": "ENSP00000364278.4",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005380.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375136.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000615215.4",
"protein_id": "ENSP00000478223.1",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 215,
"cds_start": 401,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615215.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000618761.4",
"protein_id": "ENSP00000483061.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618761.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000425400.5",
"protein_id": "ENSP00000400250.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 115,
"cds_start": 299,
"cds_end": null,
"cds_length": 350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*751C>T",
"hgvs_p": null,
"transcript": "ENST00000602384.5",
"protein_id": "ENSP00000473550.1",
"transcript_support_level": 5,
"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": "ENST00000602384.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*751C>T",
"hgvs_p": null,
"transcript": "ENST00000602384.5",
"protein_id": "ENSP00000473550.1",
"transcript_support_level": 5,
"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": "ENST00000602384.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Pro135Leu",
"transcript": "NM_182744.4",
"protein_id": "NP_877421.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 216,
"cds_start": 404,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182744.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Pro135Leu",
"transcript": "ENST00000289749.6",
"protein_id": "ENSP00000289749.2",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 216,
"cds_start": 404,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289749.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "NM_001204086.3",
"protein_id": "NP_001191015.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 215,
"cds_start": 401,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204086.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "NM_001204088.2",
"protein_id": "NP_001191017.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 195,
"cds_start": 341,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204088.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_001204084.3",
"protein_id": "NP_001191013.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204084.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_001204085.2",
"protein_id": "NP_001191014.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204085.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_001204089.2",
"protein_id": "NP_001191018.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204089.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_001278164.2",
"protein_id": "NP_001265093.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278164.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_001278165.2",
"protein_id": "NP_001265094.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278165.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "NM_001278166.2",
"protein_id": "NP_001265095.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278166.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000548815.2",
"protein_id": "ENSP00000449007.2",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548815.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000602662.1",
"protein_id": "ENSP00000473411.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602662.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000621723.4",
"protein_id": "ENSP00000478885.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621723.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000622566.4",
"protein_id": "ENSP00000480391.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622566.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899516.1",
"protein_id": "ENSP00000569575.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899516.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899517.1",
"protein_id": "ENSP00000569576.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899517.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899518.1",
"protein_id": "ENSP00000569577.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899518.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899519.1",
"protein_id": "ENSP00000569578.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899519.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899520.1",
"protein_id": "ENSP00000569579.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899520.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899521.1",
"protein_id": "ENSP00000569580.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899521.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000899522.1",
"protein_id": "ENSP00000569581.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899522.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000933903.1",
"protein_id": "ENSP00000603962.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933903.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000968538.1",
"protein_id": "ENSP00000638597.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968538.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000968539.1",
"protein_id": "ENSP00000638598.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968539.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000968540.1",
"protein_id": "ENSP00000638599.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968540.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000968541.1",
"protein_id": "ENSP00000638600.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 299,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968541.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Pro99Leu",
"transcript": "ENST00000427894.5",
"protein_id": "ENSP00000394079.1",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 162,
"cds_start": 296,
"cds_end": null,
"cds_length": 490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427894.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000451758.5",
"protein_id": "ENSP00000390607.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 127,
"cds_start": 299,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451758.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000428975.5",
"protein_id": "ENSP00000412419.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 116,
"cds_start": 299,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428975.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000439664.5",
"protein_id": "ENSP00000399333.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 108,
"cds_start": 299,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439664.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*481C>T",
"hgvs_p": null,
"transcript": "ENST00000602293.5",
"protein_id": "ENSP00000473403.2",
"transcript_support_level": 3,
"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": "ENST00000602293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000602450.1",
"protein_id": "ENSP00000473256.1",
"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": "ENST00000602450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*481C>T",
"hgvs_p": null,
"transcript": "ENST00000602293.5",
"protein_id": "ENSP00000473403.2",
"transcript_support_level": 3,
"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": "ENST00000602293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS10-NBL1",
"gene_hgnc_id": 48338,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000602450.1",
"protein_id": "ENSP00000473256.1",
"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": "ENST00000602450.1"
}
],
"gene_symbol": "NBL1",
"gene_hgnc_id": 7650,
"dbsnp": "rs750974701",
"frequency_reference_population": 0.000040336643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000370025,
"gnomad_genomes_af": 0.0000723323,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6303379535675049,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.2742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.258,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_182744.4",
"gene_symbol": "NBL1",
"hgnc_id": 7650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Pro135Leu"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001204088.2",
"gene_symbol": "MICOS10-NBL1",
"hgnc_id": 48338,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}