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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: 17-82237416-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82237416&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82237416,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000582743.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_004207.4",
"protein_id": "NP_004198.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "ENST00000582743.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000582743.6",
"protein_id": "ENSP00000462405.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": "NM_004207.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000581287.5",
"protein_id": "ENSP00000463978.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001042422.3",
"protein_id": "NP_001035887.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001042423.3",
"protein_id": "NP_001035888.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001206950.2",
"protein_id": "NP_001193879.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001206951.2",
"protein_id": "NP_001193880.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001206952.2",
"protein_id": "NP_001193881.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000392339.6",
"protein_id": "ENSP00000376150.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000392341.6",
"protein_id": "ENSP00000376152.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000580189.6",
"protein_id": "ENSP00000464112.2",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000584689.6",
"protein_id": "ENSP00000464625.2",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000617373.5",
"protein_id": "ENSP00000483212.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000619321.2",
"protein_id": "ENSP00000482013.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Arg190Cys",
"transcript": "ENST00000577650.6",
"protein_id": "ENSP00000463063.2",
"transcript_support_level": 3,
"aa_start": 190,
"aa_end": null,
"aa_length": 439,
"cds_start": 568,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"transcript": "ENST00000578684.6",
"protein_id": "ENSP00000463912.2",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 417,
"cds_start": 502,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000580098.6",
"protein_id": "ENSP00000463880.2",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 410,
"cds_start": 646,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Cys",
"transcript": "ENST00000583025.1",
"protein_id": "ENSP00000463005.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 306,
"cds_start": 247,
"cds_end": null,
"cds_length": 921,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "XM_024451023.2",
"protein_id": "XP_024306791.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "XM_047437036.1",
"protein_id": "XP_047292992.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 7334,
"cdna_end": null,
"cdna_length": 9196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "XM_047437037.1",
"protein_id": "XP_047292993.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 465,
"cds_start": 646,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "n.678C>T",
"hgvs_p": null,
"transcript": "ENST00000578810.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.120+1288C>T",
"hgvs_p": null,
"transcript": "ENST00000582715.1",
"protein_id": "ENSP00000464326.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": -4,
"cds_end": null,
"cds_length": 239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "n.*113C>T",
"hgvs_p": null,
"transcript": "ENST00000579572.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "n.*134C>T",
"hgvs_p": null,
"transcript": "ENST00000584781.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"dbsnp": "rs750915194",
"frequency_reference_population": 0.00014451916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 227,
"gnomad_exomes_af": 0.000150156,
"gnomad_genomes_af": 0.0000919842,
"gnomad_exomes_ac": 213,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20810529589653015,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.241,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000582743.6",
"gene_symbol": "SLC16A3",
"hgnc_id": 10924,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys"
}
],
"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
}