← 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: 7-5905104-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5905104&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5905104,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015622.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "NM_015622.6",
"protein_id": "NP_056437.4",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 482,
"cds_start": 533,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325974.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015622.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000325974.9",
"protein_id": "ENSP00000325681.6",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 482,
"cds_start": 533,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015622.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325974.9"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000928077.1",
"protein_id": "ENSP00000598136.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 512,
"cds_start": 533,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928077.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000928076.1",
"protein_id": "ENSP00000598135.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 487,
"cds_start": 533,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928076.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000887570.1",
"protein_id": "ENSP00000557629.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 481,
"cds_start": 533,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887570.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.530C>A",
"hgvs_p": "p.Thr177Lys",
"transcript": "ENST00000928073.1",
"protein_id": "ENSP00000598132.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 481,
"cds_start": 530,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928073.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000928078.1",
"protein_id": "ENSP00000598137.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 481,
"cds_start": 533,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928078.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Thr175Lys",
"transcript": "ENST00000928082.1",
"protein_id": "ENSP00000598141.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 479,
"cds_start": 524,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928082.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Thr168Lys",
"transcript": "ENST00000928080.1",
"protein_id": "ENSP00000598139.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 472,
"cds_start": 503,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928080.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.485C>A",
"hgvs_p": "p.Thr162Lys",
"transcript": "ENST00000928079.1",
"protein_id": "ENSP00000598138.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 466,
"cds_start": 485,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928079.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000928075.1",
"protein_id": "ENSP00000598134.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 444,
"cds_start": 533,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928075.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000887568.1",
"protein_id": "ENSP00000557627.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 424,
"cds_start": 533,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887568.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.530C>A",
"hgvs_p": "p.Thr177Lys",
"transcript": "ENST00000887573.1",
"protein_id": "ENSP00000557632.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 423,
"cds_start": 530,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887573.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000971175.1",
"protein_id": "ENSP00000641234.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 423,
"cds_start": 533,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971175.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Thr114Lys",
"transcript": "ENST00000928081.1",
"protein_id": "ENSP00000598140.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 418,
"cds_start": 341,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928081.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "ENST00000887571.1",
"protein_id": "ENSP00000557630.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 394,
"cds_start": 533,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887571.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000887569.1",
"protein_id": "ENSP00000557628.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 392,
"cds_start": 263,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887569.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Lys",
"transcript": "ENST00000928074.1",
"protein_id": "ENSP00000598133.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 376,
"cds_start": 215,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928074.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Thr44Lys",
"transcript": "ENST00000928083.1",
"protein_id": "ENSP00000598142.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 348,
"cds_start": 131,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928083.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys",
"transcript": "XM_047420465.1",
"protein_id": "XP_047276421.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 319,
"cds_start": 533,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.*202C>A",
"hgvs_p": null,
"transcript": "ENST00000628813.2",
"protein_id": "ENSP00000486988.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": null,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628813.2"
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.438+3400C>A",
"hgvs_p": null,
"transcript": "ENST00000971176.1",
"protein_id": "ENSP00000641235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": null,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971176.1"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "c.390+4172C>A",
"hgvs_p": null,
"transcript": "ENST00000887572.1",
"protein_id": "ENSP00000557631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887572.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"hgvs_c": "n.160C>A",
"hgvs_p": null,
"transcript": "ENST00000483394.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000483394.1"
}
],
"gene_symbol": "CCZ1",
"gene_hgnc_id": 21691,
"dbsnp": "rs772144601",
"frequency_reference_population": 6.886673e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88667e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8216516971588135,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.572,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8207,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.816,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015622.6",
"gene_symbol": "CCZ1",
"hgnc_id": 21691,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Thr178Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}