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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: 10-69186536-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69186536&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69186536,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003171.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "NM_003171.5",
"protein_id": "NP_003162.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 786,
"cds_start": 443,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359655.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003171.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000359655.9",
"protein_id": "ENSP00000352678.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 786,
"cds_start": 443,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003171.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359655.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "n.485T>C",
"hgvs_p": null,
"transcript": "ENST00000471069.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000471069.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000956079.1",
"protein_id": "ENSP00000626138.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 822,
"cds_start": 443,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956079.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000917552.1",
"protein_id": "ENSP00000587611.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 785,
"cds_start": 443,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917552.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000956080.1",
"protein_id": "ENSP00000626139.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 784,
"cds_start": 443,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956080.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000854047.1",
"protein_id": "ENSP00000524106.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 775,
"cds_start": 443,
"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": "ENST00000854047.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000854044.1",
"protein_id": "ENSP00000524103.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 772,
"cds_start": 443,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854044.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.365T>C",
"hgvs_p": "p.Ile122Thr",
"transcript": "ENST00000854046.1",
"protein_id": "ENSP00000524105.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 760,
"cds_start": 365,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854046.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000956081.1",
"protein_id": "ENSP00000626140.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 759,
"cds_start": 443,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956081.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000917553.1",
"protein_id": "ENSP00000587612.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 757,
"cds_start": 443,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917553.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000854045.1",
"protein_id": "ENSP00000524104.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 721,
"cds_start": 443,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854045.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000917554.1",
"protein_id": "ENSP00000587613.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 692,
"cds_start": 443,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917554.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.7T>C",
"hgvs_p": "p.Phe3Leu",
"transcript": "NM_001323585.2",
"protein_id": "NP_001310514.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 665,
"cds_start": 7,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323585.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.7T>C",
"hgvs_p": "p.Phe3Leu",
"transcript": "NM_001323586.2",
"protein_id": "NP_001310515.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 665,
"cds_start": 7,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323586.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Ile17Thr",
"transcript": "NM_001301683.2",
"protein_id": "NP_001288612.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 655,
"cds_start": 50,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301683.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Ile17Thr",
"transcript": "NM_001323584.2",
"protein_id": "NP_001310513.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 655,
"cds_start": 50,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323584.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.-467T>C",
"hgvs_p": null,
"transcript": "NM_001323587.2",
"protein_id": "NP_001310516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"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": "NM_001323587.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.-467T>C",
"hgvs_p": null,
"transcript": "NM_001323588.2",
"protein_id": "NP_001310517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"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": "NM_001323588.2"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.272-1106T>C",
"hgvs_p": null,
"transcript": "ENST00000917555.1",
"protein_id": "ENSP00000587614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917555.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "c.271+5974T>C",
"hgvs_p": null,
"transcript": "ENST00000422378.1",
"protein_id": "ENSP00000409072.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "n.589T>C",
"hgvs_p": null,
"transcript": "ENST00000483572.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000483572.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "n.501T>C",
"hgvs_p": null,
"transcript": "NR_136626.2",
"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_136626.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"hgvs_c": "n.636T>C",
"hgvs_p": null,
"transcript": "NR_136627.2",
"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_136627.2"
}
],
"gene_symbol": "SUPV3L1",
"gene_hgnc_id": 11471,
"dbsnp": "rs374862991",
"frequency_reference_population": 0.000017355085,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000184783,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.888687252998352,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.477,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.675,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.45,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003171.5",
"gene_symbol": "SUPV3L1",
"hgnc_id": 11471,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr"
}
],
"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
}