← 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: 9-14307286-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14307286&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14307286,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001369458.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001190737.2",
"protein_id": "NP_001177666.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 494,
"cds_start": 265,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380953.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190737.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000380953.6",
"protein_id": "ENSP00000370340.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 494,
"cds_start": 265,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001190737.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380953.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000380959.7",
"protein_id": "ENSP00000370346.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 420,
"cds_start": 265,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380959.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000380921.3",
"protein_id": "ENSP00000370308.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 200,
"cds_start": 265,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380921.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"transcript": "NM_001369458.1",
"protein_id": "NP_001356387.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 592,
"cds_start": 331,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369458.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"transcript": "NM_001369459.1",
"protein_id": "NP_001356388.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 583,
"cds_start": 331,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369459.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001429577.1",
"protein_id": "NP_001416506.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 570,
"cds_start": 265,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429577.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000397581.7",
"protein_id": "ENSP00000380711.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 570,
"cds_start": 265,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397581.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369460.1",
"protein_id": "NP_001356389.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 566,
"cds_start": 253,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369460.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "ENST00000646622.1",
"protein_id": "ENSP00000496424.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 566,
"cds_start": 253,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646622.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001369461.1",
"protein_id": "NP_001356390.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 561,
"cds_start": 265,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369461.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000397575.7",
"protein_id": "ENSP00000380705.3",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 561,
"cds_start": 265,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397575.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"transcript": "NM_001369462.1",
"protein_id": "NP_001356391.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 509,
"cds_start": 331,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369462.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877585.1",
"protein_id": "ENSP00000547644.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 503,
"cds_start": 265,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877585.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000959941.1",
"protein_id": "ENSP00000630000.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 503,
"cds_start": 265,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959941.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877583.1",
"protein_id": "ENSP00000547642.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 502,
"cds_start": 265,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877583.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369463.1",
"protein_id": "NP_001356392.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 494,
"cds_start": 253,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369463.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000959943.1",
"protein_id": "ENSP00000630002.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 494,
"cds_start": 265,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959943.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877586.1",
"protein_id": "ENSP00000547645.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 493,
"cds_start": 265,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877586.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001369464.1",
"protein_id": "NP_001356393.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 487,
"cds_start": 265,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369464.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000397579.6",
"protein_id": "ENSP00000380709.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 487,
"cds_start": 265,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397579.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Arg80Gly",
"transcript": "NM_001369465.1",
"protein_id": "NP_001356394.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 485,
"cds_start": 238,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369465.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369466.1",
"protein_id": "NP_001356395.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 483,
"cds_start": 253,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369466.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Arg81Gly",
"transcript": "ENST00000635877.1",
"protein_id": "ENSP00000490945.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 479,
"cds_start": 241,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635877.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Arg80Gly",
"transcript": "NM_001369467.1",
"protein_id": "NP_001356396.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 478,
"cds_start": 238,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369467.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Arg80Gly",
"transcript": "ENST00000637640.1",
"protein_id": "ENSP00000490020.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 478,
"cds_start": 238,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637640.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877589.1",
"protein_id": "ENSP00000547648.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 476,
"cds_start": 265,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877589.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "NM_001190738.2",
"protein_id": "NP_001177667.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 446,
"cds_start": 343,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190738.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000380934.8",
"protein_id": "ENSP00000370321.4",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 446,
"cds_start": 343,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380934.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000637742.1",
"protein_id": "ENSP00000490950.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 445,
"cds_start": 265,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637742.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"transcript": "NM_001369468.1",
"protein_id": "NP_001356397.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 442,
"cds_start": 331,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369468.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.121C>G",
"hgvs_p": "p.Arg41Gly",
"transcript": "NM_001369469.1",
"protein_id": "NP_001356398.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 439,
"cds_start": 121,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369469.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369470.1",
"protein_id": "NP_001356399.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 424,
"cds_start": 253,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369470.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "ENST00000636432.1",
"protein_id": "ENSP00000490588.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 424,
"cds_start": 253,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636432.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_005596.3",
"protein_id": "NP_005587.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 420,
"cds_start": 265,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005596.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000959942.1",
"protein_id": "ENSP00000630001.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 420,
"cds_start": 265,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959942.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000959944.1",
"protein_id": "ENSP00000630003.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 420,
"cds_start": 265,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959944.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001369471.1",
"protein_id": "NP_001356400.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 419,
"cds_start": 265,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369471.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877584.1",
"protein_id": "ENSP00000547643.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 419,
"cds_start": 265,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877584.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369472.1",
"protein_id": "NP_001356401.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 416,
"cds_start": 253,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369472.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "ENST00000606230.2",
"protein_id": "ENSP00000475813.2",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 416,
"cds_start": 253,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606230.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369473.1",
"protein_id": "NP_001356402.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 415,
"cds_start": 253,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369473.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.250C>G",
"hgvs_p": "p.Arg84Gly",
"transcript": "NM_001369474.1",
"protein_id": "NP_001356403.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 414,
"cds_start": 250,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369474.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001369475.1",
"protein_id": "NP_001356404.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 412,
"cds_start": 265,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369475.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Arg80Gly",
"transcript": "NM_001369476.1",
"protein_id": "NP_001356405.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 411,
"cds_start": 238,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369476.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.238C>G",
"hgvs_p": "p.Arg80Gly",
"transcript": "ENST00000636057.1",
"protein_id": "ENSP00000490762.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 411,
"cds_start": 238,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636057.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001369477.1",
"protein_id": "NP_001356406.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 401,
"cds_start": 265,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369477.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "NM_001369478.1",
"protein_id": "NP_001356407.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 341,
"cds_start": 253,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369478.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877588.1",
"protein_id": "ENSP00000547647.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 340,
"cds_start": 265,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877588.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877590.1",
"protein_id": "ENSP00000547649.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 317,
"cds_start": 265,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877590.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000877587.1",
"protein_id": "ENSP00000547646.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 265,
"cds_start": 265,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877587.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001369481.1",
"protein_id": "NP_001356410.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 200,
"cds_start": 265,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369481.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000636063.1",
"protein_id": "ENSP00000489634.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 181,
"cds_start": 265,
"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": "ENST00000636063.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.250C>G",
"hgvs_p": "p.Arg84Gly",
"transcript": "ENST00000493697.1",
"protein_id": "ENSP00000475362.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 165,
"cds_start": 250,
"cds_end": null,
"cds_length": 500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493697.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "n.96+7573C>G",
"hgvs_p": null,
"transcript": "NR_161382.1",
"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": "pseudogene",
"feature": "NR_161382.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "n.447+14655C>G",
"hgvs_p": null,
"transcript": "NR_161383.1",
"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": "pseudogene",
"feature": "NR_161383.1"
}
],
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"dbsnp": "rs764333096",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8710169196128845,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.818,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001369458.1",
"gene_symbol": "NFIB",
"hgnc_id": 7785,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}