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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: 1-44008366-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44008366&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44008366,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000372310.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "NM_001024845.3",
"protein_id": "NP_001020016.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 633,
"cds_start": 577,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000372310.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000372310.8",
"protein_id": "ENSP00000361384.4",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 633,
"cds_start": 577,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_001024845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "ENST00000360584.6",
"protein_id": "ENSP00000353791.2",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 706,
"cds_start": 796,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Glu212Lys",
"transcript": "ENST00000357730.6",
"protein_id": "ENSP00000350362.2",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 652,
"cds_start": 634,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "NM_201649.4",
"protein_id": "NP_964012.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 706,
"cds_start": 796,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Glu212Lys",
"transcript": "NM_006934.4",
"protein_id": "NP_008865.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 652,
"cds_start": 634,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"transcript": "NM_001261380.2",
"protein_id": "NP_001248309.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 637,
"cds_start": 589,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "NM_001328629.1",
"protein_id": "NP_001315558.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 633,
"cds_start": 577,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000673836.1",
"protein_id": "ENSP00000501314.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 633,
"cds_start": 577,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Glu172Lys",
"transcript": "NM_001328627.1",
"protein_id": "NP_001315556.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 612,
"cds_start": 514,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000372306.7",
"protein_id": "ENSP00000361380.3",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 579,
"cds_start": 577,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"transcript": "ENST00000372307.7",
"protein_id": "ENSP00000361381.3",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 574,
"cds_start": 382,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"transcript": "NM_001328628.1",
"protein_id": "NP_001315557.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 568,
"cds_start": 382,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Glu82Lys",
"transcript": "NM_001328626.2",
"protein_id": "NP_001315555.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 522,
"cds_start": 244,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Glu82Lys",
"transcript": "ENST00000475075.6",
"protein_id": "ENSP00000434460.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 522,
"cds_start": 244,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Glu82Lys",
"transcript": "NM_001328630.2",
"protein_id": "NP_001315559.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 465,
"cds_start": 244,
"cds_end": null,
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"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047428739.1",
"protein_id": "XP_047284695.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 687,
"cds_start": 739,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "XM_047428740.1",
"protein_id": "XP_047284696.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 633,
"cds_start": 577,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 4717,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Glu266Lys",
"transcript": "XM_011542017.3",
"protein_id": "XP_011540319.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 618,
"cds_start": 796,
"cds_end": null,
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"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "XM_017002152.3",
"protein_id": "XP_016857641.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 606,
"cds_start": 496,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 581,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047428743.1",
"protein_id": "XP_047284699.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 599,
"cds_start": 739,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "XM_047428744.1",
"protein_id": "XP_047284700.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 545,
"cds_start": 577,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "n.664G>A",
"hgvs_p": null,
"transcript": "NR_048548.2",
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"transcript_support_level": null,
"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": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.*231G>A",
"hgvs_p": null,
"transcript": "ENST00000528803.1",
"protein_id": "ENSP00000435652.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 524,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "n.*149G>A",
"hgvs_p": null,
"transcript": "ENST00000492434.6",
"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": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"dbsnp": "rs193921002",
"frequency_reference_population": 0.0000061959404,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000478883,
"gnomad_genomes_af": 0.0000197075,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4645960330963135,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.395,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6579,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.9,
"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": 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": "ENST00000372310.8",
"gene_symbol": "SLC6A9",
"hgnc_id": 11056,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys"
}
],
"clinvar_disease": "Atypical glycine encephalopathy,Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Prostate cancer|Atypical glycine encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}