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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: 12-95513815-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95513815&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95513815,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006838.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Ile450Val",
"transcript": "NM_006838.4",
"protein_id": "NP_006829.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 478,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323666.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006838.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Ile450Val",
"transcript": "ENST00000323666.10",
"protein_id": "ENSP00000325312.5",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 478,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006838.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323666.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1366A>G",
"hgvs_p": "p.Ile456Val",
"transcript": "ENST00000878867.1",
"protein_id": "ENSP00000548926.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 484,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878867.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "NM_001330246.2",
"protein_id": "NP_001317175.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 477,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330246.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "ENST00000551840.5",
"protein_id": "ENSP00000450063.1",
"transcript_support_level": 5,
"aa_start": 449,
"aa_end": null,
"aa_length": 477,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551840.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "ENST00000934960.1",
"protein_id": "ENSP00000605019.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 477,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934960.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1342A>G",
"hgvs_p": "p.Ile448Val",
"transcript": "ENST00000947084.1",
"protein_id": "ENSP00000617143.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 476,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947084.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "ENST00000947086.1",
"protein_id": "ENSP00000617145.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 465,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947086.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1285A>G",
"hgvs_p": "p.Ile429Val",
"transcript": "ENST00000934965.1",
"protein_id": "ENSP00000605024.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 457,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934965.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1285A>G",
"hgvs_p": "p.Ile429Val",
"transcript": "ENST00000947087.1",
"protein_id": "ENSP00000617146.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 457,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947087.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "ENST00000878866.1",
"protein_id": "ENSP00000548925.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 456,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878866.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Ile427Val",
"transcript": "NM_001317182.2",
"protein_id": "NP_001304111.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 455,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317182.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Ile427Val",
"transcript": "NM_001317183.2",
"protein_id": "NP_001304112.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 455,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317183.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Ile427Val",
"transcript": "ENST00000261220.13",
"protein_id": "ENSP00000261220.9",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 455,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261220.13"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Ile427Val",
"transcript": "ENST00000546753.5",
"protein_id": "ENSP00000448169.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 455,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546753.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1279A>G",
"hgvs_p": "p.Ile427Val",
"transcript": "ENST00000934963.1",
"protein_id": "ENSP00000605022.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 455,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934963.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1276A>G",
"hgvs_p": "p.Ile426Val",
"transcript": "ENST00000947085.1",
"protein_id": "ENSP00000617144.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 454,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947085.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Ile414Val",
"transcript": "ENST00000550777.5",
"protein_id": "ENSP00000448614.1",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 442,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550777.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "ENST00000934962.1",
"protein_id": "ENSP00000605021.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 265,
"cds_start": 709,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934962.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "ENST00000934961.1",
"protein_id": "ENSP00000605020.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 264,
"cds_start": 706,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934961.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Ile215Val",
"transcript": "ENST00000934964.1",
"protein_id": "ENSP00000605023.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 243,
"cds_start": 643,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934964.1"
},
{
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "n.*257A>G",
"hgvs_p": null,
"transcript": "ENST00000535095.5",
"protein_id": "ENSP00000446052.1",
"transcript_support_level": 2,
"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": "ENST00000535095.5"
},
{
"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": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "n.1272A>G",
"hgvs_p": null,
"transcript": "NR_133673.2",
"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_133673.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"hgvs_c": "n.*257A>G",
"hgvs_p": null,
"transcript": "ENST00000535095.5",
"protein_id": "ENSP00000446052.1",
"transcript_support_level": 2,
"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": "ENST00000535095.5"
}
],
"gene_symbol": "METAP2",
"gene_hgnc_id": 16672,
"dbsnp": "rs778464018",
"frequency_reference_population": 0.000002052152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12327221035957336,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.0687,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.104,
"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": 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_006838.4",
"gene_symbol": "METAP2",
"hgnc_id": 16672,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Ile450Val"
}
],
"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
}