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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: 15-77037133-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77037133&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 77037133,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001321137.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Gly403Glu",
"transcript": "NM_003978.5",
"protein_id": "NP_003969.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 416,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000558012.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003978.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Gly403Glu",
"transcript": "ENST00000558012.6",
"protein_id": "ENSP00000452746.1",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 416,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003978.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558012.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Gly384Glu",
"transcript": "ENST00000559295.5",
"protein_id": "ENSP00000452743.1",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 397,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559295.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Gly119Glu",
"transcript": "ENST00000558870.1",
"protein_id": "ENSP00000452779.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 132,
"cds_start": 356,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.*183G>A",
"hgvs_p": null,
"transcript": "ENST00000559785.5",
"protein_id": "ENSP00000452986.1",
"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": "ENST00000559785.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.*1310G>A",
"hgvs_p": null,
"transcript": "ENST00000560223.5",
"protein_id": "ENSP00000454118.1",
"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": "ENST00000560223.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.*183G>A",
"hgvs_p": null,
"transcript": "ENST00000559785.5",
"protein_id": "ENSP00000452986.1",
"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": "ENST00000559785.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.*1310G>A",
"hgvs_p": null,
"transcript": "ENST00000560223.5",
"protein_id": "ENSP00000454118.1",
"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": "ENST00000560223.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Glu",
"transcript": "NM_001321137.1",
"protein_id": "NP_001308066.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 481,
"cds_start": 1403,
"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": "NM_001321137.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Gly403Glu",
"transcript": "ENST00000884367.1",
"protein_id": "ENSP00000554426.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 416,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884367.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Glu",
"transcript": "NM_001411086.1",
"protein_id": "NP_001398015.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 413,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411086.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Gly400Glu",
"transcript": "ENST00000379595.7",
"protein_id": "ENSP00000368914.3",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 413,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379595.7"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Gly394Glu",
"transcript": "NM_001321136.2",
"protein_id": "NP_001308065.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 407,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321136.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Gly384Glu",
"transcript": "NM_001321135.2",
"protein_id": "NP_001308064.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 397,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321135.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Gly422Glu",
"transcript": "XM_011522168.4",
"protein_id": "XP_011520470.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 435,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522168.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Gly419Glu",
"transcript": "XM_011522163.3",
"protein_id": "XP_011520465.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 432,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522163.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Gly354Glu",
"transcript": "XM_011522165.3",
"protein_id": "XP_011520467.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 367,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522165.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Gly335Glu",
"transcript": "XM_047433278.1",
"protein_id": "XP_047289234.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 348,
"cds_start": 1004,
"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": "XM_047433278.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Gly281Glu",
"transcript": "XM_006720737.4",
"protein_id": "XP_006720800.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 294,
"cds_start": 842,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720737.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.872G>A",
"hgvs_p": null,
"transcript": "ENST00000557995.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000557995.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.331G>A",
"hgvs_p": null,
"transcript": "ENST00000560064.1",
"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": "ENST00000560064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.2374G>A",
"hgvs_p": null,
"transcript": "ENST00000697622.1",
"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": "retained_intron",
"feature": "ENST00000697622.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.2627G>A",
"hgvs_p": null,
"transcript": "ENST00000697623.1",
"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": "retained_intron",
"feature": "ENST00000697623.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.1388G>A",
"hgvs_p": null,
"transcript": "NR_135552.2",
"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": "NR_135552.2"
}
],
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"dbsnp": "rs201572812",
"frequency_reference_population": 0.00046649776,
"hom_count_reference_population": 3,
"allele_count_reference_population": 752,
"gnomad_exomes_af": 0.000487033,
"gnomad_genomes_af": 0.000269467,
"gnomad_exomes_ac": 711,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8699339628219604,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2393,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.401,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001321137.1",
"gene_symbol": "PSTPIP1",
"hgnc_id": 9580,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Glu"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 B:1",
"phenotype_combined": "not specified|Pyogenic arthritis-pyoderma gangrenosum-acne syndrome|not provided|Autoinflammatory syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}