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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: 19-13081842-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13081842&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13081842,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000592199.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1243delG",
"hgvs_p": "p.Ala415fs",
"transcript": "NM_001365902.3",
"protein_id": "NP_001352831.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 502,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "ENST00000592199.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1243delG",
"hgvs_p": "p.Ala415fs",
"transcript": "ENST00000592199.6",
"protein_id": "ENSP00000467512.1",
"transcript_support_level": 5,
"aa_start": 415,
"aa_end": null,
"aa_length": 502,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "NM_001365902.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1240delG",
"hgvs_p": "p.Ala414fs",
"transcript": "ENST00000587260.1",
"protein_id": "ENSP00000467785.1",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 440,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1219delG",
"hgvs_p": "p.Ala407fs",
"transcript": "ENST00000587760.5",
"protein_id": "ENSP00000466389.1",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 433,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1291delG",
"hgvs_p": "p.Ala431fs",
"transcript": "NM_001378405.1",
"protein_id": "NP_001365334.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 518,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1267delG",
"hgvs_p": "p.Ala423fs",
"transcript": "NM_001271043.2",
"protein_id": "NP_001257972.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 510,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1267delG",
"hgvs_p": "p.Ala423fs",
"transcript": "ENST00000676441.1",
"protein_id": "ENSP00000502554.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 510,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1240delG",
"hgvs_p": "p.Ala414fs",
"transcript": "NM_001365984.2",
"protein_id": "NP_001352913.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 501,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1219delG",
"hgvs_p": "p.Ala407fs",
"transcript": "NM_001378404.1",
"protein_id": "NP_001365333.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 494,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1219delG",
"hgvs_p": "p.Ala407fs",
"transcript": "ENST00000585575.5",
"protein_id": "ENSP00000468794.1",
"transcript_support_level": 5,
"aa_start": 407,
"aa_end": null,
"aa_length": 494,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1117delG",
"hgvs_p": "p.Ala373fs",
"transcript": "ENST00000358552.8",
"protein_id": "ENSP00000351354.5",
"transcript_support_level": 5,
"aa_start": 373,
"aa_end": null,
"aa_length": 460,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1102delG",
"hgvs_p": "p.Ala368fs",
"transcript": "ENST00000588228.5",
"protein_id": "ENSP00000466735.1",
"transcript_support_level": 2,
"aa_start": 368,
"aa_end": null,
"aa_length": 455,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1096delG",
"hgvs_p": "p.Ala366fs",
"transcript": "NM_001440616.1",
"protein_id": "NP_001427545.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 453,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 5560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1243delG",
"hgvs_p": "p.Ala415fs",
"transcript": "NM_002501.4",
"protein_id": "NP_002492.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 441,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1243delG",
"hgvs_p": "p.Ala415fs",
"transcript": "ENST00000397661.6",
"protein_id": "ENSP00000380781.2",
"transcript_support_level": 5,
"aa_start": 415,
"aa_end": null,
"aa_length": 441,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1240delG",
"hgvs_p": "p.Ala414fs",
"transcript": "NM_001365985.2",
"protein_id": "NP_001352914.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 440,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1219delG",
"hgvs_p": "p.Ala407fs",
"transcript": "NM_001271044.3",
"protein_id": "NP_001257973.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 433,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1129delG",
"hgvs_p": "p.Ala377fs",
"transcript": "ENST00000360105.8",
"protein_id": "ENSP00000353219.4",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 403,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 5459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1120delG",
"hgvs_p": "p.Ala374fs",
"transcript": "NM_001365982.2",
"protein_id": "NP_001352911.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 400,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1102delG",
"hgvs_p": "p.Ala368fs",
"transcript": "NM_001365983.2",
"protein_id": "NP_001352912.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 394,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1096delG",
"hgvs_p": "p.Ala366fs",
"transcript": "NM_001440617.1",
"protein_id": "NP_001427546.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 392,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.979delG",
"hgvs_p": "p.Ala327fs",
"transcript": "XM_005259917.5",
"protein_id": "XP_005259974.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 414,
"cds_start": 979,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.979delG",
"hgvs_p": "p.Ala327fs",
"transcript": "XM_047438863.1",
"protein_id": "XP_047294819.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 353,
"cds_start": 979,
"cds_end": null,
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},
{
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},
{
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"consequences": [
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],
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank": 6,
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"gene_symbol": "NFIX",
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "NFIX",
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"transcript": "ENST00000693124.1",
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},
{
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"consequences": [
"upstream_gene_variant"
],
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"intron_rank": null,
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"gene_symbol": "ENSG00000279044",
"gene_hgnc_id": null,
"hgvs_c": "n.-123delG",
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"transcript": "ENST00000625100.1",
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"exon_count": 8,
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"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "n.*611delG",
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"transcript": "ENST00000585382.5",
"protein_id": "ENSP00000466605.1",
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"feature": null
}
],
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"dbsnp": "rs398122873",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.43,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000592199.6",
"gene_symbol": "NFIX",
"hgnc_id": 7788,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1243delG",
"hgvs_p": "p.Ala415fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625100.1",
"gene_symbol": "ENSG00000279044",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-123delG",
"hgvs_p": null
}
],
"clinvar_disease": "Marshall-Smith syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Marshall-Smith syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}