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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: 4-153295599-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153295599&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153295599,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375488.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Thr358Met",
"transcript": "NM_015271.5",
"protein_id": "NP_056086.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 771,
"cds_start": 1073,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338700.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015271.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Thr358Met",
"transcript": "ENST00000338700.10",
"protein_id": "ENSP00000339659.5",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 771,
"cds_start": 1073,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338700.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 898,
"cds_start": 992,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "ENST00000437508.7",
"protein_id": "ENSP00000415812.2",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 744,
"cds_start": 992,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437508.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "ENST00000494872.6",
"protein_id": "ENSP00000488229.2",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 681,
"cds_start": 992,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494872.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "ENST00000675079.1",
"protein_id": "ENSP00000502677.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 902,
"cds_start": 992,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "ENST00000674967.1",
"protein_id": "ENSP00000501627.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 898,
"cds_start": 992,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Thr389Met",
"transcript": "NM_001375488.1",
"protein_id": "NP_001362417.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 802,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375488.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Met",
"transcript": "NM_001375489.1",
"protein_id": "NP_001362418.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 801,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375489.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Thr380Met",
"transcript": "ENST00000674847.1",
"protein_id": "ENSP00000501983.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 797,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674847.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Thr220Met",
"transcript": "ENST00000675518.1",
"protein_id": "ENSP00000501852.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 787,
"cds_start": 659,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Thr358Met",
"transcript": "NM_001438618.1",
"protein_id": "NP_001425547.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 775,
"cds_start": 1073,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438618.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Thr362Met",
"transcript": "ENST00000675063.1",
"protein_id": "ENSP00000501562.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 775,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675063.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Thr362Met",
"transcript": "ENST00000675673.1",
"protein_id": "ENSP00000502083.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 775,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675673.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Met",
"transcript": "NM_001438619.1",
"protein_id": "NP_001425548.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 774,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438619.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Met",
"transcript": "NM_001438620.1",
"protein_id": "NP_001425549.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 770,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438620.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Thr354Met",
"transcript": "ENST00000894199.1",
"protein_id": "ENSP00000564258.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 767,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894199.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1046C>T",
"hgvs_p": "p.Thr349Met",
"transcript": "NM_001351054.2",
"protein_id": "NP_001337983.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 766,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351054.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1046C>T",
"hgvs_p": "p.Thr349Met",
"transcript": "ENST00000674935.1",
"protein_id": "ENSP00000501672.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 766,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674935.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Thr348Met",
"transcript": "NM_001351055.2",
"protein_id": "NP_001337984.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 765,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351055.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Thr348Met",
"transcript": "ENST00000674726.1",
"protein_id": "ENSP00000502266.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 765,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674726.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1046C>T",
"hgvs_p": "p.Thr349Met",
"transcript": "ENST00000675977.1",
"protein_id": "ENSP00000501671.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 762,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2289,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.372+19469C>T",
"hgvs_p": null,
"transcript": "ENST00000676224.1",
"protein_id": "ENSP00000502745.1",
"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": "ENST00000676224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "n.426+19469C>T",
"hgvs_p": null,
"transcript": "ENST00000676291.1",
"protein_id": "ENSP00000502141.1",
"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": "ENST00000676291.1"
}
],
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"dbsnp": "rs756377335",
"frequency_reference_population": 0.000020449163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000212073,
"gnomad_genomes_af": 0.0000131582,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6836148500442505,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.118,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.534,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375488.1",
"gene_symbol": "TRIM2",
"hgnc_id": 15974,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Thr389Met"
},
{
"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.992C>T",
"hgvs_p": "p.Thr331Met"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2R,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2R|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}