← 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: 1-61088234-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61088234&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 61088234,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000403491.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "NM_001134673.4",
"protein_id": "NP_001128145.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 509,
"cds_start": 113,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "ENST00000403491.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000403491.8",
"protein_id": "ENSP00000384523.3",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 509,
"cds_start": 113,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "NM_001134673.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000371187.7",
"protein_id": "ENSP00000360229.3",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 498,
"cds_start": 113,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "NM_001145512.2",
"protein_id": "NP_001138984.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 554,
"cds_start": 248,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 9338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "ENST00000371189.8",
"protein_id": "ENSP00000360231.3",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 554,
"cds_start": 248,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000699987.1",
"protein_id": "ENSP00000514740.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 550,
"cds_start": 113,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61Gln",
"transcript": "ENST00000371191.5",
"protein_id": "ENSP00000360233.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 532,
"cds_start": 182,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000482020.2",
"protein_id": "ENSP00000474806.2",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 511,
"cds_start": 113,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000699965.1",
"protein_id": "ENSP00000514721.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 510,
"cds_start": 113,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000664149.1",
"protein_id": "ENSP00000499651.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 508,
"cds_start": 113,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30Gln",
"transcript": "NM_001145511.2",
"protein_id": "NP_001138983.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 501,
"cds_start": 89,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 9373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30Gln",
"transcript": "ENST00000407417.7",
"protein_id": "ENSP00000384680.2",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 501,
"cds_start": 89,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "NM_005595.5",
"protein_id": "NP_005586.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 498,
"cds_start": 113,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 9137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30Gln",
"transcript": "ENST00000699964.1",
"protein_id": "ENSP00000514720.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 490,
"cds_start": 89,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000371185.6",
"protein_id": "ENSP00000360227.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 487,
"cds_start": 113,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000699986.1",
"protein_id": "ENSP00000514739.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 487,
"cds_start": 113,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000485903.6",
"protein_id": "ENSP00000419785.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 466,
"cds_start": 113,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000699967.1",
"protein_id": "ENSP00000514723.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 416,
"cds_start": 113,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000371184.6",
"protein_id": "ENSP00000360226.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 380,
"cds_start": 113,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000699993.1",
"protein_id": "ENSP00000514743.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 365,
"cds_start": 113,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 3201,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.86G>A",
"hgvs_p": null,
"transcript": "ENST00000603233.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 44880,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.113G>A",
"hgvs_p": null,
"transcript": "ENST00000662015.1",
"protein_id": "ENSP00000499312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4676,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*205G>A",
"hgvs_p": null,
"transcript": "ENST00000664495.1",
"protein_id": "ENSP00000499306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4535,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.113G>A",
"hgvs_p": null,
"transcript": "ENST00000670151.1",
"protein_id": "ENSP00000499729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4528,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.113G>A",
"hgvs_p": null,
"transcript": "ENST00000699966.1",
"protein_id": "ENSP00000514722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.-29G>A",
"hgvs_p": null,
"transcript": "ENST00000476646.5",
"protein_id": "ENSP00000474461.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 730,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*205G>A",
"hgvs_p": null,
"transcript": "ENST00000664495.1",
"protein_id": "ENSP00000499306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.149+6319G>A",
"hgvs_p": null,
"transcript": "ENST00000479364.1",
"protein_id": null,
"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": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.-179G>A",
"hgvs_p": null,
"transcript": "ENST00000496712.1",
"protein_id": "ENSP00000473830.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"dbsnp": "rs1553149169",
"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": 0.8999772667884827,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.682,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"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": "ENST00000403491.8",
"gene_symbol": "NFIA",
"hgnc_id": 7784,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}