← 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: 16-69693831-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69693831&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69693831,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138713.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4006A>G",
"hgvs_p": "p.Met1336Val",
"transcript": "NM_138713.4",
"protein_id": "NP_619727.2",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349945.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138713.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4006A>G",
"hgvs_p": "p.Met1336Val",
"transcript": "ENST00000349945.7",
"protein_id": "ENSP00000338806.3",
"transcript_support_level": 1,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138713.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349945.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4003A>G",
"hgvs_p": "p.Met1335Val",
"transcript": "ENST00000567239.5",
"protein_id": "ENSP00000457593.1",
"transcript_support_level": 1,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567239.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3952A>G",
"hgvs_p": "p.Met1318Val",
"transcript": "ENST00000354436.6",
"protein_id": "ENSP00000346420.2",
"transcript_support_level": 1,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3952,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354436.6"
},
{
"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.*3768A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000393742.7"
},
{
"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.*3768A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426654.6"
},
{
"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.*3768A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566899.6"
},
{
"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.*3768A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000393742.7"
},
{
"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.*3768A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426654.6"
},
{
"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.*3768A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566899.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4003A>G",
"hgvs_p": "p.Met1335Val",
"transcript": "NM_001113178.3",
"protein_id": "NP_001106649.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113178.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3952A>G",
"hgvs_p": "p.Met1318Val",
"transcript": "NM_006599.4",
"protein_id": "NP_006590.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3952,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006599.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3949A>G",
"hgvs_p": "p.Met1317Val",
"transcript": "ENST00000896455.1",
"protein_id": "ENSP00000566514.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3949,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896455.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3934A>G",
"hgvs_p": "p.Met1312Val",
"transcript": "ENST00000957741.1",
"protein_id": "ENSP00000627800.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957741.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3724A>G",
"hgvs_p": "p.Met1242Val",
"transcript": "NM_138714.4",
"protein_id": "NP_619728.2",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3724,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138714.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3724A>G",
"hgvs_p": "p.Met1242Val",
"transcript": "NM_173214.3",
"protein_id": "NP_775321.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3724,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173214.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3724A>G",
"hgvs_p": "p.Met1242Val",
"transcript": "NM_173215.3",
"protein_id": "NP_775322.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3724,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173215.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3331A>G",
"hgvs_p": "p.Met1111Val",
"transcript": "NM_001367709.1",
"protein_id": "NP_001354638.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367709.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.2512A>G",
"hgvs_p": "p.Met838Val",
"transcript": "ENST00000896456.1",
"protein_id": "ENSP00000566515.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896456.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3949A>G",
"hgvs_p": "p.Met1317Val",
"transcript": "XM_011522817.4",
"protein_id": "XP_011521119.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3949,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522817.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3820A>G",
"hgvs_p": "p.Met1274Val",
"transcript": "XM_047433510.1",
"protein_id": "XP_047289466.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433510.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3820A>G",
"hgvs_p": "p.Met1274Val",
"transcript": "XM_047433511.1",
"protein_id": "XP_047289467.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433511.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3817A>G",
"hgvs_p": "p.Met1273Val",
"transcript": "XM_047433513.1",
"protein_id": "XP_047289469.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3817,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433513.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3724A>G",
"hgvs_p": "p.Met1242Val",
"transcript": "XM_047433512.1",
"protein_id": "XP_047289468.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3724,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433512.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3334A>G",
"hgvs_p": "p.Met1112Val",
"transcript": "XM_011522820.4",
"protein_id": "XP_011521122.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522820.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3334A>G",
"hgvs_p": "p.Met1112Val",
"transcript": "XM_011522822.4",
"protein_id": "XP_011521124.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522822.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3334A>G",
"hgvs_p": "p.Met1112Val",
"transcript": "XM_017022872.3",
"protein_id": "XP_016878361.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022872.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3334A>G",
"hgvs_p": "p.Met1112Val",
"transcript": "XM_047433514.1",
"protein_id": "XP_047289470.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433514.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3331A>G",
"hgvs_p": "p.Met1111Val",
"transcript": "XM_047433515.1",
"protein_id": "XP_047289471.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433515.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1750-255A>G",
"hgvs_p": null,
"transcript": "ENST00000917859.1",
"protein_id": "ENSP00000587918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917859.1"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1718-1305A>G",
"hgvs_p": null,
"transcript": "ENST00000917858.1",
"protein_id": "ENSP00000587917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917858.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.394-255A>G",
"hgvs_p": null,
"transcript": "ENST00000896457.1",
"protein_id": "ENSP00000566516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896457.1"
},
{
"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.295-255A>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": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565301.2"
},
{
"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.*3122A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000627621.3"
},
{
"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.*3122A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650987.1"
},
{
"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.4342A>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": 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": "XR_007064848.1"
},
{
"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.*3122A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000627621.3"
},
{
"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.*3122A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650987.1"
}
],
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"dbsnp": "rs150642075",
"frequency_reference_population": 0.00005141764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.000046515,
"gnomad_genomes_af": 0.0000984653,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17268192768096924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.0585,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.918,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_138713.4",
"gene_symbol": "NFAT5",
"hgnc_id": 7774,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4006A>G",
"hgvs_p": "p.Met1336Val"
}
],
"clinvar_disease": "Immunodeficiency,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Immunodeficiency|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}