← 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: 4-153394326-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153394326&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153394326,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032117.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "NM_032117.4",
"protein_id": "NP_115493.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 205,
"cds_start": 341,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240488.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032117.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "ENST00000240488.8",
"protein_id": "ENSP00000240488.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 205,
"cds_start": 341,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032117.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240488.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu",
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 898,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675838.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"transcript": "ENST00000504860.2",
"protein_id": "ENSP00000422933.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 165,
"cds_start": 296,
"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": "ENST00000504860.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2432G>T",
"hgvs_p": "p.Arg811Leu",
"transcript": "ENST00000675079.1",
"protein_id": "ENSP00000502677.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 902,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675079.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu",
"transcript": "ENST00000674967.1",
"protein_id": "ENSP00000501627.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 898,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674967.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2087G>T",
"hgvs_p": "p.Arg696Leu",
"transcript": "ENST00000675518.1",
"protein_id": "ENSP00000501852.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 787,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675518.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.413G>T",
"hgvs_p": "p.Arg138Leu",
"transcript": "ENST00000940511.1",
"protein_id": "ENSP00000610570.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 229,
"cds_start": 413,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940511.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Arg127Leu",
"transcript": "ENST00000940509.1",
"protein_id": "ENSP00000610568.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 218,
"cds_start": 380,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940509.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "ENST00000902388.1",
"protein_id": "ENSP00000572447.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 190,
"cds_start": 341,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902388.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.275G>T",
"hgvs_p": "p.Arg92Leu",
"transcript": "ENST00000940510.1",
"protein_id": "ENSP00000610569.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 183,
"cds_start": 275,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940510.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.134G>T",
"hgvs_p": "p.Arg45Leu",
"transcript": "ENST00000940507.1",
"protein_id": "ENSP00000610566.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 136,
"cds_start": 134,
"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": "ENST00000940507.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "NM_001253861.1",
"protein_id": "NP_001240790.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 122,
"cds_start": 341,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253861.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "ENST00000622785.4",
"protein_id": "ENSP00000477758.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 122,
"cds_start": 341,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622785.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000940508.1",
"protein_id": "ENSP00000610567.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 114,
"cds_start": 68,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940508.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"transcript": "ENST00000508731.5",
"protein_id": "ENSP00000425500.1",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 101,
"cds_start": 296,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508731.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000940512.1",
"protein_id": "ENSP00000610571.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 99,
"cds_start": 68,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940512.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "XM_005263275.3",
"protein_id": "XP_005263332.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 190,
"cds_start": 341,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263275.3"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.277-2893G>T",
"hgvs_p": null,
"transcript": "ENST00000940506.1",
"protein_id": "ENSP00000610565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "n.*121G>T",
"hgvs_p": null,
"transcript": "ENST00000509752.5",
"protein_id": "ENSP00000427559.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509752.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "n.*1885G>T",
"hgvs_p": null,
"transcript": "ENST00000674680.1",
"protein_id": "ENSP00000502469.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000674680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "n.552G>T",
"hgvs_p": null,
"transcript": "NR_045605.2",
"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_045605.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "n.*121G>T",
"hgvs_p": null,
"transcript": "ENST00000509752.5",
"protein_id": "ENSP00000427559.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509752.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "n.*1885G>T",
"hgvs_p": null,
"transcript": "ENST00000674680.1",
"protein_id": "ENSP00000502469.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000674680.1"
}
],
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"dbsnp": "rs747722860",
"frequency_reference_population": 0.0000075397516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000753975,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7314544916152954,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.394,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3031,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.395,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032117.4",
"gene_symbol": "MND1",
"hgnc_id": 24839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675838.1",
"gene_symbol": "ENSG00000288637",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2420G>T",
"hgvs_p": "p.Arg807Leu"
}
],
"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
}