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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: 17-42795314-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42795314&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42795314,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032387.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Leu965Phe",
"transcript": "NM_032387.5",
"protein_id": "NP_115763.2",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246914.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032387.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Leu965Phe",
"transcript": "ENST00000246914.10",
"protein_id": "ENSP00000246914.4",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032387.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246914.10"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "n.*1394C>T",
"hgvs_p": null,
"transcript": "ENST00000591448.5",
"protein_id": "ENSP00000467088.1",
"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": "ENST00000591448.5"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "n.*1394C>T",
"hgvs_p": null,
"transcript": "ENST00000591448.5",
"protein_id": "ENSP00000467088.1",
"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": "ENST00000591448.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2890C>T",
"hgvs_p": "p.Leu964Phe",
"transcript": "ENST00000871309.1",
"protein_id": "ENSP00000541368.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871309.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2884C>T",
"hgvs_p": "p.Leu962Phe",
"transcript": "ENST00000871313.1",
"protein_id": "ENSP00000541372.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871313.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Leu965Phe",
"transcript": "ENST00000871311.1",
"protein_id": "ENSP00000541370.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871311.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Leu919Phe",
"transcript": "ENST00000871310.1",
"protein_id": "ENSP00000541369.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871310.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Leu918Phe",
"transcript": "ENST00000871312.1",
"protein_id": "ENSP00000541371.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871312.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Leu629Phe",
"transcript": "NM_001321299.2",
"protein_id": "NP_001308228.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 907,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321299.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Leu965Phe",
"transcript": "XM_017024962.2",
"protein_id": "XP_016880451.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1302,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024962.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2890C>T",
"hgvs_p": "p.Leu964Phe",
"transcript": "XM_047436554.1",
"protein_id": "XP_047292510.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1301,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436554.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Leu919Phe",
"transcript": "XM_047436556.1",
"protein_id": "XP_047292512.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436556.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Leu918Phe",
"transcript": "XM_047436557.1",
"protein_id": "XP_047292513.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436557.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2890C>T",
"hgvs_p": "p.Leu964Phe",
"transcript": "XM_047436558.1",
"protein_id": "XP_047292514.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436558.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Leu965Phe",
"transcript": "XM_047436559.1",
"protein_id": "XP_047292515.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436559.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2890C>T",
"hgvs_p": "p.Leu964Phe",
"transcript": "XM_047436560.1",
"protein_id": "XP_047292516.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1228,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436560.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Leu919Phe",
"transcript": "XM_047436561.1",
"protein_id": "XP_047292517.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436561.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Leu918Phe",
"transcript": "XM_047436562.1",
"protein_id": "XP_047292518.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436562.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Leu919Phe",
"transcript": "XM_047436563.1",
"protein_id": "XP_047292519.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1183,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436563.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.Leu629Phe",
"transcript": "XM_017024966.2",
"protein_id": "XP_016880455.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 966,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024966.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"hgvs_c": "c.71-311C>T",
"hgvs_p": null,
"transcript": "ENST00000587745.1",
"protein_id": "ENSP00000467312.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA3",
"gene_hgnc_id": 24990,
"hgvs_c": "n.*982G>A",
"hgvs_p": null,
"transcript": "ENST00000586680.1",
"protein_id": "ENSP00000467546.1",
"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": "ENST00000586680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA3",
"gene_hgnc_id": 24990,
"hgvs_c": "n.*982G>A",
"hgvs_p": null,
"transcript": "ENST00000586680.1",
"protein_id": "ENSP00000467546.1",
"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": "ENST00000586680.1"
}
],
"gene_symbol": "WNK4",
"gene_hgnc_id": 14544,
"dbsnp": "rs200640984",
"frequency_reference_population": 0.00006443651,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000588294,
"gnomad_genomes_af": 0.000118314,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01650923490524292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.489,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032387.5",
"gene_symbol": "WNK4",
"hgnc_id": 14544,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Leu965Phe"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000586680.1",
"gene_symbol": "COA3",
"hgnc_id": 24990,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.*982G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Pseudohypoaldosteronism type 2B,WNK4-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not provided|WNK4-related disorder|Pseudohypoaldosteronism type 2B",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}