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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: 18-63350953-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63350953&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63350953,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002035.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "NM_002035.4",
"protein_id": "NP_002026.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 332,
"cds_start": 544,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645214.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002035.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000645214.2",
"protein_id": "ENSP00000494352.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 332,
"cds_start": 544,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002035.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645214.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Ser",
"transcript": "ENST00000951441.1",
"protein_id": "ENSP00000621500.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 362,
"cds_start": 634,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951441.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Ser",
"transcript": "ENST00000882920.1",
"protein_id": "ENSP00000552979.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 334,
"cds_start": 634,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882920.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000882922.1",
"protein_id": "ENSP00000552981.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 334,
"cds_start": 544,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882922.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Gly181Ser",
"transcript": "ENST00000928432.1",
"protein_id": "ENSP00000598491.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 331,
"cds_start": 541,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928432.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000951442.1",
"protein_id": "ENSP00000621501.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 330,
"cds_start": 544,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951442.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Gly163Ser",
"transcript": "ENST00000882916.1",
"protein_id": "ENSP00000552975.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 313,
"cds_start": 487,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882916.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Gly160Ser",
"transcript": "ENST00000882923.1",
"protein_id": "ENSP00000552982.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 310,
"cds_start": 478,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882923.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000882917.1",
"protein_id": "ENSP00000552976.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 304,
"cds_start": 544,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882917.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000882919.1",
"protein_id": "ENSP00000552978.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 304,
"cds_start": 544,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882919.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000591902.6",
"protein_id": "ENSP00000468203.2",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 298,
"cds_start": 544,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591902.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Gly141Ser",
"transcript": "ENST00000928433.1",
"protein_id": "ENSP00000598492.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 291,
"cds_start": 421,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928433.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Ser",
"transcript": "ENST00000951443.1",
"protein_id": "ENSP00000621502.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 278,
"cds_start": 382,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951443.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000882921.1",
"protein_id": "ENSP00000552980.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 276,
"cds_start": 544,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882921.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000882918.1",
"protein_id": "ENSP00000552977.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 270,
"cds_start": 544,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882918.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.417+4251G>A",
"hgvs_p": null,
"transcript": "ENST00000326575.9",
"protein_id": "ENSP00000312939.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326575.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.255+8783G>A",
"hgvs_p": null,
"transcript": "ENST00000882924.1",
"protein_id": "ENSP00000552983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882924.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "n.238G>A",
"hgvs_p": null,
"transcript": "ENST00000585750.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000585750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "n.*483G>A",
"hgvs_p": null,
"transcript": "ENST00000644624.1",
"protein_id": "ENSP00000494878.1",
"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": "ENST00000644624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "n.*694G>A",
"hgvs_p": null,
"transcript": "ENST00000646205.1",
"protein_id": "ENSP00000496260.1",
"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": "ENST00000646205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "n.*483G>A",
"hgvs_p": null,
"transcript": "ENST00000644624.1",
"protein_id": "ENSP00000494878.1",
"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": "ENST00000644624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "n.*694G>A",
"hgvs_p": null,
"transcript": "ENST00000646205.1",
"protein_id": "ENSP00000496260.1",
"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": "ENST00000646205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"hgvs_c": "c.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000592327.1",
"protein_id": "ENSP00000467962.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592327.1"
}
],
"gene_symbol": "KDSR",
"gene_hgnc_id": 4021,
"dbsnp": "rs751571336",
"frequency_reference_population": 0.000006156675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615668,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9392738342285156,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.838,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7211,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002035.4",
"gene_symbol": "KDSR",
"hgnc_id": 4021,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser"
}
],
"clinvar_disease": "Erythrokeratodermia variabilis et progressiva 4",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Erythrokeratodermia variabilis et progressiva 4",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}