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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: 6-110967547-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110967547&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110967547,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138408.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.399C>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "NM_138408.4",
"protein_id": "NP_612417.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 213,
"cds_start": 399,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329970.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138408.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.399C>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "ENST00000329970.8",
"protein_id": "ENSP00000357863.4",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 213,
"cds_start": 399,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138408.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329970.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.537C>A",
"hgvs_p": "p.Phe179Leu",
"transcript": "ENST00000935770.1",
"protein_id": "ENSP00000605829.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 259,
"cds_start": 537,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935770.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.456C>A",
"hgvs_p": "p.Phe152Leu",
"transcript": "ENST00000935771.1",
"protein_id": "ENSP00000605830.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 232,
"cds_start": 456,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935771.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.426C>A",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000935762.1",
"protein_id": "ENSP00000605821.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 222,
"cds_start": 426,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935762.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.402C>A",
"hgvs_p": "p.Phe134Leu",
"transcript": "ENST00000883260.1",
"protein_id": "ENSP00000553319.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 214,
"cds_start": 402,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883260.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.399C>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "ENST00000935766.1",
"protein_id": "ENSP00000605825.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 213,
"cds_start": 399,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935766.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.396C>A",
"hgvs_p": "p.Phe132Leu",
"transcript": "ENST00000935759.1",
"protein_id": "ENSP00000605818.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 212,
"cds_start": 396,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935759.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.396C>A",
"hgvs_p": "p.Phe132Leu",
"transcript": "ENST00000935764.1",
"protein_id": "ENSP00000605823.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 212,
"cds_start": 396,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935764.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.393C>A",
"hgvs_p": "p.Phe131Leu",
"transcript": "ENST00000883264.1",
"protein_id": "ENSP00000553323.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 393,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883264.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.393C>A",
"hgvs_p": "p.Phe131Leu",
"transcript": "ENST00000883265.1",
"protein_id": "ENSP00000553324.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 393,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883265.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.393C>A",
"hgvs_p": "p.Phe131Leu",
"transcript": "ENST00000935763.1",
"protein_id": "ENSP00000605822.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 393,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935763.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.393C>A",
"hgvs_p": "p.Phe131Leu",
"transcript": "ENST00000935765.1",
"protein_id": "ENSP00000605824.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 393,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935765.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.390C>A",
"hgvs_p": "p.Phe130Leu",
"transcript": "ENST00000883262.1",
"protein_id": "ENSP00000553321.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 210,
"cds_start": 390,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883262.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.390C>A",
"hgvs_p": "p.Phe130Leu",
"transcript": "ENST00000935760.1",
"protein_id": "ENSP00000605819.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 210,
"cds_start": 390,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935760.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.357C>A",
"hgvs_p": "p.Phe119Leu",
"transcript": "ENST00000935761.1",
"protein_id": "ENSP00000605820.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 199,
"cds_start": 357,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935761.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.354C>A",
"hgvs_p": "p.Phe118Leu",
"transcript": "ENST00000883263.1",
"protein_id": "ENSP00000553322.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 198,
"cds_start": 354,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883263.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.318C>A",
"hgvs_p": "p.Phe106Leu",
"transcript": "ENST00000883261.1",
"protein_id": "ENSP00000553320.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 318,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883261.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.288C>A",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000935768.1",
"protein_id": "ENSP00000605827.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 176,
"cds_start": 288,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935768.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Phe95Leu",
"transcript": "ENST00000935769.1",
"protein_id": "ENSP00000605828.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 175,
"cds_start": 285,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935769.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "c.362-47C>A",
"hgvs_p": null,
"transcript": "ENST00000935767.1",
"protein_id": "ENSP00000605826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C6",
"gene_hgnc_id": 20872,
"hgvs_c": "n.457C>A",
"hgvs_p": null,
"transcript": "ENST00000480191.1",
"protein_id": null,
"transcript_support_level": 3,
"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,
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "ENSG00000298854",
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"aa_length": null,
"cds_start": null,
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"exon_count": 2,
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"gene_symbol": "ENSG00000298854",
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"hgvs_c": "n.224+1223G>T",
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000758434.1"
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],
"gene_symbol": "GTF3C6",
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"dbsnp": "rs1239917299",
"frequency_reference_population": 6.8429125e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84291e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16965574026107788,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.368,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7326,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.977,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138408.4",
"gene_symbol": "GTF3C6",
"hgnc_id": 20872,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.399C>A",
"hgvs_p": "p.Phe133Leu"
},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000758433.1",
"gene_symbol": "ENSG00000298854",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.71-6963G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}