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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: 14-61037070-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61037070&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61037070,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001172702.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "NM_153811.3",
"protein_id": "NP_722518.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 456,
"cds_start": 494,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267488.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153811.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "ENST00000267488.9",
"protein_id": "ENSP00000267488.4",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 456,
"cds_start": 494,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153811.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267488.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "ENST00000354886.6",
"protein_id": "ENSP00000346959.2",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 521,
"cds_start": 494,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354886.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.479T>C",
"hgvs_p": "p.Leu160Pro",
"transcript": "ENST00000451406.5",
"protein_id": "ENSP00000395851.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 516,
"cds_start": 479,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451406.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*368T>C",
"hgvs_p": null,
"transcript": "ENST00000491344.7",
"protein_id": "ENSP00000431212.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000491344.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*683T>C",
"hgvs_p": null,
"transcript": "ENST00000527591.5",
"protein_id": "ENSP00000434737.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000527591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*368T>C",
"hgvs_p": null,
"transcript": "ENST00000491344.7",
"protein_id": "ENSP00000431212.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000491344.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*683T>C",
"hgvs_p": null,
"transcript": "ENST00000527591.5",
"protein_id": "ENSP00000434737.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000527591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.-110T>C",
"hgvs_p": null,
"transcript": "XM_024449496.2",
"protein_id": "XP_024305264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449496.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "NM_001172702.2",
"protein_id": "NP_001166173.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 521,
"cds_start": 494,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172702.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "ENST00000878035.1",
"protein_id": "ENSP00000548094.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 416,
"cds_start": 494,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878035.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000533744.6",
"protein_id": "ENSP00000434543.2",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 192,
"cds_start": 245,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533744.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Leu111Pro",
"transcript": "ENST00000526105.5",
"protein_id": "ENSP00000451244.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 125,
"cds_start": 332,
"cds_end": null,
"cds_length": 380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526105.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_017021020.2",
"protein_id": "XP_016876509.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 459,
"cds_start": 494,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021020.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_047431001.1",
"protein_id": "XP_047286957.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 459,
"cds_start": 494,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431001.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_047431002.1",
"protein_id": "XP_047286958.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 459,
"cds_start": 494,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431002.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_017021021.2",
"protein_id": "XP_016876510.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 441,
"cds_start": 494,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021021.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_047431003.1",
"protein_id": "XP_047286959.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 441,
"cds_start": 494,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431003.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_047431004.1",
"protein_id": "XP_047286960.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 438,
"cds_start": 494,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431004.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Leu142Pro",
"transcript": "XM_017021022.2",
"protein_id": "XP_016876511.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 436,
"cds_start": 425,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021022.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro",
"transcript": "XM_017021023.2",
"protein_id": "XP_016876512.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 435,
"cds_start": 494,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021023.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.425T>C",
"hgvs_p": "p.Leu142Pro",
"transcript": "XM_047431005.1",
"protein_id": "XP_047286961.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 433,
"cds_start": 425,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307460",
"gene_hgnc_id": null,
"hgvs_c": "n.388+4121A>G",
"hgvs_p": null,
"transcript": "ENST00000826436.1",
"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": "ENST00000826436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC101927756",
"gene_hgnc_id": null,
"hgvs_c": "n.297+4121A>G",
"hgvs_p": null,
"transcript": "XR_943921.2",
"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": "XR_943921.2"
}
],
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"dbsnp": "rs773589623",
"frequency_reference_population": 0.000007443273,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000753281,
"gnomad_genomes_af": 0.00000658259,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6389317512512207,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.423,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.256,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001172702.2",
"gene_symbol": "SLC38A6",
"hgnc_id": 19863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Leu165Pro"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000826433.1",
"gene_symbol": "ENSG00000307460",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.333-4348A>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "XR_943921.2",
"gene_symbol": "LOC101927756",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.297+4121A>G",
"hgvs_p": null
}
],
"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
}