← 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: 1-17438318-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=17438318&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 17438318,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018715.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "NM_018715.4",
"protein_id": "NP_061185.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 522,
"cds_start": 197,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375436.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018715.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000375436.9",
"protein_id": "ENSP00000364585.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 522,
"cds_start": 197,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018715.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375436.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000375433.3",
"protein_id": "ENSP00000364582.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 522,
"cds_start": 197,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375433.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927104.1",
"protein_id": "ENSP00000597163.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 548,
"cds_start": 197,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927104.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "NM_001136204.3",
"protein_id": "NP_001129676.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 522,
"cds_start": 197,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136204.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927084.1",
"protein_id": "ENSP00000597143.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 522,
"cds_start": 197,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927084.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927093.1",
"protein_id": "ENSP00000597152.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 522,
"cds_start": 197,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927093.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927109.1",
"protein_id": "ENSP00000597169.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 521,
"cds_start": 197,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927109.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927087.1",
"protein_id": "ENSP00000597145.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 519,
"cds_start": 197,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927087.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927088.1",
"protein_id": "ENSP00000597146.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 519,
"cds_start": 197,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927088.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927099.1",
"protein_id": "ENSP00000597157.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 519,
"cds_start": 197,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927099.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927100.1",
"protein_id": "ENSP00000597158.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 511,
"cds_start": 197,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927100.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000878232.1",
"protein_id": "ENSP00000548291.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 496,
"cds_start": 197,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878232.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927098.1",
"protein_id": "ENSP00000597156.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 496,
"cds_start": 197,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927098.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927091.1",
"protein_id": "ENSP00000597150.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 478,
"cds_start": 197,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927091.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927086.1",
"protein_id": "ENSP00000597144.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 474,
"cds_start": 197,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927086.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927095.1",
"protein_id": "ENSP00000597154.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 474,
"cds_start": 197,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927095.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927094.1",
"protein_id": "ENSP00000597153.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 444,
"cds_start": 197,
"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": "ENST00000927094.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927106.1",
"protein_id": "ENSP00000597165.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 428,
"cds_start": 197,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927106.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927089.1",
"protein_id": "ENSP00000597147.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 410,
"cds_start": 197,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927089.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927102.1",
"protein_id": "ENSP00000597161.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 410,
"cds_start": 197,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927102.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927092.1",
"protein_id": "ENSP00000597151.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 376,
"cds_start": 197,
"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": "ENST00000927092.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927090.1",
"protein_id": "ENSP00000597149.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 362,
"cds_start": 197,
"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": "ENST00000927090.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp",
"transcript": "ENST00000927097.1",
"protein_id": "ENSP00000597155.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 362,
"cds_start": 197,
"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": "ENST00000927097.1"
}
],
"gene_symbol": "RCC2",
"gene_hgnc_id": 30297,
"dbsnp": "rs1454626195",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10881394147872925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.2196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.35,
"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": 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_018715.4",
"gene_symbol": "RCC2",
"hgnc_id": 30297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Gly66Asp"
}
],
"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
}