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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: 1-150226728-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150226728&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150226728,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030920.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "NM_030920.5",
"protein_id": "NP_112182.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 268,
"cds_start": 561,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000583931.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030920.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "ENST00000583931.6",
"protein_id": "ENSP00000463154.1",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 268,
"cds_start": 561,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030920.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583931.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "ENST00000854339.1",
"protein_id": "ENSP00000524398.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 285,
"cds_start": 561,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854339.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "ENST00000933652.1",
"protein_id": "ENSP00000603711.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 268,
"cds_start": 561,
"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": "ENST00000933652.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "NM_001280559.2",
"protein_id": "NP_001267488.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 267,
"cds_start": 561,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280559.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "ENST00000854337.1",
"protein_id": "ENSP00000524396.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 267,
"cds_start": 561,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854337.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "ENST00000854338.1",
"protein_id": "ENSP00000524397.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 266,
"cds_start": 561,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854338.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.438G>T",
"hgvs_p": "p.Glu146Asp",
"transcript": "NM_001136478.4",
"protein_id": "NP_001129950.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 227,
"cds_start": 438,
"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": "NM_001136478.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.438G>T",
"hgvs_p": "p.Glu146Asp",
"transcript": "ENST00000436748.6",
"protein_id": "ENSP00000393718.2",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 227,
"cds_start": 438,
"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": "ENST00000436748.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.438G>T",
"hgvs_p": "p.Glu146Asp",
"transcript": "ENST00000953648.1",
"protein_id": "ENSP00000623707.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 226,
"cds_start": 438,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953648.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.417G>T",
"hgvs_p": "p.Glu139Asp",
"transcript": "NM_001136479.3",
"protein_id": "NP_001129951.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 417,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136479.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.417G>T",
"hgvs_p": "p.Glu139Asp",
"transcript": "ENST00000616917.4",
"protein_id": "ENSP00000481415.1",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 417,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616917.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Glu96Asp",
"transcript": "ENST00000933651.1",
"protein_id": "ENSP00000603710.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 177,
"cds_start": 288,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933651.1"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.395G>T",
"hgvs_p": "p.Arg132Met",
"transcript": "NM_001280560.2",
"protein_id": "NP_001267489.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 165,
"cds_start": 395,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280560.2"
},
{
"aa_ref": "R",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.395G>T",
"hgvs_p": "p.Arg132Met",
"transcript": "ENST00000533654.5",
"protein_id": "ENSP00000435215.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 165,
"cds_start": 395,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533654.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.165G>T",
"hgvs_p": "p.Glu55Asp",
"transcript": "ENST00000369115.3",
"protein_id": "ENSP00000358111.2",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 136,
"cds_start": 165,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369115.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.165G>T",
"hgvs_p": "p.Glu55Asp",
"transcript": "ENST00000629042.2",
"protein_id": "ENSP00000487027.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 136,
"cds_start": 165,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629042.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.195G>T",
"hgvs_p": "p.Glu65Asp",
"transcript": "ENST00000534220.1",
"protein_id": "ENSP00000436529.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 104,
"cds_start": 195,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534220.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Glu1Asp",
"transcript": "ENST00000534437.1",
"protein_id": "ENSP00000431434.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 100,
"cds_start": 3,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534437.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "XM_005245513.5",
"protein_id": "XP_005245570.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 286,
"cds_start": 561,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245513.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "XM_017002418.3",
"protein_id": "XP_016857907.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 285,
"cds_start": 561,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002418.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp",
"transcript": "XM_005245514.5",
"protein_id": "XP_005245571.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 253,
"cds_start": 561,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245514.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.328-3488G>T",
"hgvs_p": null,
"transcript": "ENST00000369114.9",
"protein_id": "ENSP00000358110.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369114.9"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"hgvs_c": "c.55-3488G>T",
"hgvs_p": null,
"transcript": "ENST00000933650.1",
"protein_id": "ENSP00000603709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933650.1"
}
],
"gene_symbol": "ANP32E",
"gene_hgnc_id": 16673,
"dbsnp": "rs148947714",
"frequency_reference_population": 0.0000065749678,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657497,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17855405807495117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.0775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.126,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030920.5",
"gene_symbol": "ANP32E",
"hgnc_id": 16673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Glu187Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}