← 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: 16-69693047-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69693047&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69693047,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000349945.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3222A>G",
"hgvs_p": "p.Gln1074Gln",
"transcript": "NM_138713.4",
"protein_id": "NP_619727.2",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1549,
"cds_start": 3222,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 13289,
"mane_select": "ENST00000349945.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3222A>G",
"hgvs_p": "p.Gln1074Gln",
"transcript": "ENST00000349945.7",
"protein_id": "ENSP00000338806.3",
"transcript_support_level": 1,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1549,
"cds_start": 3222,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 13289,
"mane_select": "NM_138713.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3219A>G",
"hgvs_p": "p.Gln1073Gln",
"transcript": "ENST00000567239.5",
"protein_id": "ENSP00000457593.1",
"transcript_support_level": 1,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3219,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 6376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3168A>G",
"hgvs_p": "p.Gln1056Gln",
"transcript": "ENST00000354436.6",
"protein_id": "ENSP00000346420.2",
"transcript_support_level": 1,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3168,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 13229,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2984A>G",
"hgvs_p": null,
"transcript": "ENST00000393742.7",
"protein_id": "ENSP00000377343.3",
"transcript_support_level": 1,
"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": 13067,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2984A>G",
"hgvs_p": null,
"transcript": "ENST00000426654.6",
"protein_id": "ENSP00000413126.2",
"transcript_support_level": 1,
"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": 14219,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2984A>G",
"hgvs_p": null,
"transcript": "ENST00000566899.6",
"protein_id": "ENSP00000455628.2",
"transcript_support_level": 1,
"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": 4914,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2984A>G",
"hgvs_p": null,
"transcript": "ENST00000393742.7",
"protein_id": "ENSP00000377343.3",
"transcript_support_level": 1,
"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": 13067,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2984A>G",
"hgvs_p": null,
"transcript": "ENST00000426654.6",
"protein_id": "ENSP00000413126.2",
"transcript_support_level": 1,
"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": 14219,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2984A>G",
"hgvs_p": null,
"transcript": "ENST00000566899.6",
"protein_id": "ENSP00000455628.2",
"transcript_support_level": 1,
"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": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3219A>G",
"hgvs_p": "p.Gln1073Gln",
"transcript": "NM_001113178.3",
"protein_id": "NP_001106649.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3219,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 3555,
"cdna_end": null,
"cdna_length": 13286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3168A>G",
"hgvs_p": "p.Gln1056Gln",
"transcript": "NM_006599.4",
"protein_id": "NP_006590.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3168,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 13235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2940A>G",
"hgvs_p": "p.Gln980Gln",
"transcript": "NM_138714.4",
"protein_id": "NP_619728.2",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2940,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 13351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2940A>G",
"hgvs_p": "p.Gln980Gln",
"transcript": "NM_173214.3",
"protein_id": "NP_775321.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2940,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 13297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2940A>G",
"hgvs_p": "p.Gln980Gln",
"transcript": "NM_173215.3",
"protein_id": "NP_775322.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2940,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2547A>G",
"hgvs_p": "p.Gln849Gln",
"transcript": "NM_001367709.1",
"protein_id": "NP_001354638.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 12813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3165A>G",
"hgvs_p": "p.Gln1055Gln",
"transcript": "XM_011522817.4",
"protein_id": "XP_011521119.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 13232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3036A>G",
"hgvs_p": "p.Gln1012Gln",
"transcript": "XM_047433510.1",
"protein_id": "XP_047289466.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3036,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 16665,
"cdna_end": null,
"cdna_length": 26396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3036A>G",
"hgvs_p": "p.Gln1012Gln",
"transcript": "XM_047433511.1",
"protein_id": "XP_047289467.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3036,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 3573,
"cdna_end": null,
"cdna_length": 13304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.3033A>G",
"hgvs_p": "p.Gln1011Gln",
"transcript": "XM_047433513.1",
"protein_id": "XP_047289469.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3033,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 16662,
"cdna_end": null,
"cdna_length": 26393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2940A>G",
"hgvs_p": "p.Gln980Gln",
"transcript": "XM_047433512.1",
"protein_id": "XP_047289468.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2940,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 16216,
"cdna_end": null,
"cdna_length": 25947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2550A>G",
"hgvs_p": "p.Gln850Gln",
"transcript": "XM_011522820.4",
"protein_id": "XP_011521122.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 12436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2550A>G",
"hgvs_p": "p.Gln850Gln",
"transcript": "XM_011522822.4",
"protein_id": "XP_011521124.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 12384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2550A>G",
"hgvs_p": "p.Gln850Gln",
"transcript": "XM_017022872.3",
"protein_id": "XP_016878361.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 11197,
"cdna_end": null,
"cdna_length": 20928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2550A>G",
"hgvs_p": "p.Gln850Gln",
"transcript": "XM_047433514.1",
"protein_id": "XP_047289470.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 15797,
"cdna_end": null,
"cdna_length": 25528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2547A>G",
"hgvs_p": "p.Gln849Gln",
"transcript": "XM_047433515.1",
"protein_id": "XP_047289471.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 15794,
"cdna_end": null,
"cdna_length": 25525,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2338A>G",
"hgvs_p": null,
"transcript": "ENST00000627621.3",
"protein_id": "ENSP00000486610.2",
"transcript_support_level": 2,
"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": 8413,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2338A>G",
"hgvs_p": null,
"transcript": "ENST00000650987.1",
"protein_id": "ENSP00000498326.1",
"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": 8413,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.3558A>G",
"hgvs_p": null,
"transcript": "XR_007064848.1",
"protein_id": null,
"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": 13332,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2338A>G",
"hgvs_p": null,
"transcript": "ENST00000627621.3",
"protein_id": "ENSP00000486610.2",
"transcript_support_level": 2,
"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": 8413,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*2338A>G",
"hgvs_p": null,
"transcript": "ENST00000650987.1",
"protein_id": "ENSP00000498326.1",
"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": 8413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.295-1039A>G",
"hgvs_p": null,
"transcript": "ENST00000565301.2",
"protein_id": "ENSP00000463214.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"dbsnp": "rs754574529",
"frequency_reference_population": 0.0000012392157,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84114e-7,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.137,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000349945.7",
"gene_symbol": "NFAT5",
"hgnc_id": 7774,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3222A>G",
"hgvs_p": "p.Gln1074Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}