← 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: 19-13025213-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13025213&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13025213,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000592199.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly",
"transcript": "NM_001365902.3",
"protein_id": "NP_001352831.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 502,
"cds_start": 220,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "ENST00000592199.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly",
"transcript": "ENST00000592199.6",
"protein_id": "ENSP00000467512.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 502,
"cds_start": 220,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "NM_001365902.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "ENST00000587260.1",
"protein_id": "ENSP00000467785.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 440,
"cds_start": 217,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Arg66Gly",
"transcript": "ENST00000587760.5",
"protein_id": "ENSP00000466389.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 433,
"cds_start": 196,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Arg90Gly",
"transcript": "NM_001378405.1",
"protein_id": "NP_001365334.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 518,
"cds_start": 268,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "NM_001271043.2",
"protein_id": "NP_001257972.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 510,
"cds_start": 244,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000676441.1",
"protein_id": "ENSP00000502554.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 510,
"cds_start": 244,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "NM_001365984.2",
"protein_id": "NP_001352913.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 501,
"cds_start": 217,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Arg66Gly",
"transcript": "NM_001378404.1",
"protein_id": "NP_001365333.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 494,
"cds_start": 196,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Arg66Gly",
"transcript": "ENST00000585575.5",
"protein_id": "ENSP00000468794.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 494,
"cds_start": 196,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "ENST00000358552.8",
"protein_id": "ENSP00000351354.5",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 460,
"cds_start": 217,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Arg27Gly",
"transcript": "ENST00000588228.5",
"protein_id": "ENSP00000466735.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 455,
"cds_start": 79,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Arg66Gly",
"transcript": "NM_001440616.1",
"protein_id": "NP_001427545.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 453,
"cds_start": 196,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly",
"transcript": "NM_002501.4",
"protein_id": "NP_002492.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 441,
"cds_start": 220,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly",
"transcript": "ENST00000397661.6",
"protein_id": "ENSP00000380781.2",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 441,
"cds_start": 220,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "NM_001365985.2",
"protein_id": "NP_001352914.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 440,
"cds_start": 217,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Arg66Gly",
"transcript": "NM_001271044.3",
"protein_id": "NP_001257973.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 433,
"cds_start": 196,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Arg77Gly",
"transcript": "ENST00000360105.8",
"protein_id": "ENSP00000353219.4",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 403,
"cds_start": 229,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 5459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly",
"transcript": "NM_001365982.2",
"protein_id": "NP_001352911.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 400,
"cds_start": 220,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Arg27Gly",
"transcript": "NM_001365983.2",
"protein_id": "NP_001352912.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 394,
"cds_start": 79,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "ENST00000622520.2",
"protein_id": "ENSP00000481181.2",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 393,
"cds_start": 217,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Arg66Gly",
"transcript": "NM_001440617.1",
"protein_id": "NP_001427546.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 392,
"cds_start": 196,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Arg13Gly",
"transcript": "ENST00000693124.1",
"protein_id": "ENSP00000509710.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 292,
"cds_start": 37,
"cds_end": null,
"cds_length": 879,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Arg90Gly",
"transcript": "ENST00000591028.1",
"protein_id": "ENSP00000465094.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 182,
"cds_start": 268,
"cds_end": null,
"cds_length": 550,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Arg27Gly",
"transcript": "ENST00000590027.1",
"protein_id": "ENSP00000465616.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 127,
"cds_start": 79,
"cds_end": null,
"cds_length": 386,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Arg27Gly",
"transcript": "ENST00000586873.1",
"protein_id": "ENSP00000468707.1",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 124,
"cds_start": 79,
"cds_end": null,
"cds_length": 376,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Arg27Gly",
"transcript": "XM_005259917.5",
"protein_id": "XP_005259974.2",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 414,
"cds_start": 79,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.79C>G",
"hgvs_p": "p.Arg27Gly",
"transcript": "XM_047438863.1",
"protein_id": "XP_047294819.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 353,
"cds_start": 79,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "n.79C>G",
"hgvs_p": null,
"transcript": "ENST00000585382.5",
"protein_id": "ENSP00000466605.1",
"transcript_support_level": 5,
"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": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "n.*51C>G",
"hgvs_p": null,
"transcript": "ENST00000586797.5",
"protein_id": "ENSP00000467536.1",
"transcript_support_level": 5,
"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": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "n.*51C>G",
"hgvs_p": null,
"transcript": "ENST00000586797.5",
"protein_id": "ENSP00000467536.1",
"transcript_support_level": 5,
"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": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"dbsnp": "rs770170081",
"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": 0.9020067453384399,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.775,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.903,
"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": 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": "ENST00000592199.6",
"gene_symbol": "NFIX",
"hgnc_id": 7788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.220C>G",
"hgvs_p": "p.Arg74Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}