← Back to variant description
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: 1-161175220-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161175220&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161175220,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003779.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_003779.4",
"protein_id": "NP_003770.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319769.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003779.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000319769.10",
"protein_id": "ENSP00000320965.5",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003779.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319769.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000367998.5",
"protein_id": "ENSP00000356977.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367998.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000622395.4",
"protein_id": "ENSP00000480428.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622395.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907555.1",
"protein_id": "ENSP00000577614.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 405,
"cds_start": 262,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907555.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907560.1",
"protein_id": "ENSP00000577619.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 405,
"cds_start": 262,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907560.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940286.1",
"protein_id": "ENSP00000610345.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 404,
"cds_start": 262,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940286.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940283.1",
"protein_id": "ENSP00000610342.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 400,
"cds_start": 262,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940283.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_001199873.1",
"protein_id": "NP_001186802.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199873.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_001199874.1",
"protein_id": "NP_001186803.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199874.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907550.1",
"protein_id": "ENSP00000577609.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907550.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907551.1",
"protein_id": "ENSP00000577610.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907551.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907552.1",
"protein_id": "ENSP00000577611.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907552.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907553.1",
"protein_id": "ENSP00000577612.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907553.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907554.1",
"protein_id": "ENSP00000577613.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907554.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907556.1",
"protein_id": "ENSP00000577615.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907556.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907557.1",
"protein_id": "ENSP00000577616.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907557.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907559.1",
"protein_id": "ENSP00000577618.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907559.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907561.1",
"protein_id": "ENSP00000577620.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907561.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907563.1",
"protein_id": "ENSP00000577622.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907563.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907566.1",
"protein_id": "ENSP00000577625.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907566.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907567.1",
"protein_id": "ENSP00000577626.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907567.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907568.1",
"protein_id": "ENSP00000577627.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907568.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907569.1",
"protein_id": "ENSP00000577628.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907569.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940281.1",
"protein_id": "ENSP00000610340.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940281.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940282.1",
"protein_id": "ENSP00000610341.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940282.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940284.1",
"protein_id": "ENSP00000610343.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940284.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940285.1",
"protein_id": "ENSP00000610344.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940285.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940288.1",
"protein_id": "ENSP00000610347.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940288.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940289.1",
"protein_id": "ENSP00000610348.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940289.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940290.1",
"protein_id": "ENSP00000610349.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940290.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940291.1",
"protein_id": "ENSP00000610350.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940291.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940292.1",
"protein_id": "ENSP00000610351.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940292.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940293.1",
"protein_id": "ENSP00000610352.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940293.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940294.1",
"protein_id": "ENSP00000610353.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940294.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940296.1",
"protein_id": "ENSP00000610355.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940296.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940297.1",
"protein_id": "ENSP00000610356.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940297.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940298.1",
"protein_id": "ENSP00000610357.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940298.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940299.1",
"protein_id": "ENSP00000610358.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940299.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940300.1",
"protein_id": "ENSP00000610359.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940300.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940301.1",
"protein_id": "ENSP00000610360.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940301.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000945765.1",
"protein_id": "ENSP00000615824.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945765.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907558.1",
"protein_id": "ENSP00000577617.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 372,
"cds_start": 262,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907558.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907562.1",
"protein_id": "ENSP00000577621.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 372,
"cds_start": 262,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907562.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000945764.1",
"protein_id": "ENSP00000615823.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 358,
"cds_start": 262,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945764.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907564.1",
"protein_id": "ENSP00000577623.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 352,
"cds_start": 262,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907564.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940287.1",
"protein_id": "ENSP00000610346.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 352,
"cds_start": 262,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940287.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000940295.1",
"protein_id": "ENSP00000610354.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 352,
"cds_start": 262,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940295.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000907565.1",
"protein_id": "ENSP00000577624.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 284,
"cds_start": 262,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907565.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_005245566.3",
"protein_id": "XP_005245623.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245566.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_024450540.2",
"protein_id": "XP_024306308.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450540.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_024450541.2",
"protein_id": "XP_024306309.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450541.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_047433399.1",
"protein_id": "XP_047289355.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 393,
"cds_start": 262,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433399.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_011510093.3",
"protein_id": "XP_011508395.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 310,
"cds_start": 262,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510093.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_017002714.3",
"protein_id": "XP_016858203.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 310,
"cds_start": 262,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002714.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_047433401.1",
"protein_id": "XP_047289357.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 310,
"cds_start": 262,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433401.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "XM_047433402.1",
"protein_id": "XP_047289358.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 310,
"cds_start": 262,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433402.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.373-1629C>T",
"hgvs_p": null,
"transcript": "ENST00000497522.5",
"protein_id": "ENSP00000491230.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497522.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.238-1629C>T",
"hgvs_p": null,
"transcript": "ENST00000535223.5",
"protein_id": "ENSP00000443769.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535223.5"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1378-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509663.3",
"protein_id": "XP_011507965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509663.3"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1363-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509664.2",
"protein_id": "XP_011507966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509664.2"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1378-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509665.3",
"protein_id": "XP_011507967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": null,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509665.3"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1363-1629C>T",
"hgvs_p": null,
"transcript": "XM_047423569.1",
"protein_id": "XP_047279525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423569.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1264-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509667.3",
"protein_id": "XP_011507969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509667.3"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1264-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509668.3",
"protein_id": "XP_011507970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509668.3"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1264-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509670.3",
"protein_id": "XP_011507972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509670.3"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1264-1629C>T",
"hgvs_p": null,
"transcript": "XM_047423581.1",
"protein_id": "XP_047279537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423581.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1249-1629C>T",
"hgvs_p": null,
"transcript": "XM_005245291.5",
"protein_id": "XP_005245348.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245291.5"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1114-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509673.3",
"protein_id": "XP_011507975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509673.3"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1087-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509674.3",
"protein_id": "XP_011507976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509674.3"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.841-1629C>T",
"hgvs_p": null,
"transcript": "XM_005245295.4",
"protein_id": "XP_005245352.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245295.4"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.841-1629C>T",
"hgvs_p": null,
"transcript": "XM_011509678.2",
"protein_id": "XP_011507980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509678.2"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.841-1629C>T",
"hgvs_p": null,
"transcript": "XM_047423592.1",
"protein_id": "XP_047279548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423592.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.547-1629C>T",
"hgvs_p": null,
"transcript": "XM_047423604.1",
"protein_id": "XP_047279560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "n.358G>A",
"hgvs_p": null,
"transcript": "ENST00000465740.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465740.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "n.298G>A",
"hgvs_p": null,
"transcript": "ENST00000466504.5",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466504.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "n.1622G>A",
"hgvs_p": null,
"transcript": "ENST00000470882.5",
"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": "ENST00000470882.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "n.535G>A",
"hgvs_p": null,
"transcript": "ENST00000487004.5",
"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": "ENST00000487004.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "n.494G>A",
"hgvs_p": null,
"transcript": "ENST00000493164.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000493164.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"hgvs_c": "n.684G>A",
"hgvs_p": null,
"transcript": "ENST00000496313.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000496313.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*930-1629C>T",
"hgvs_p": null,
"transcript": "ENST00000495483.5",
"protein_id": "ENSP00000490967.1",
"transcript_support_level": 2,
"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": "ENST00000495483.5"
}
],
"gene_symbol": "B4GALT3",
"gene_hgnc_id": 926,
"dbsnp": "rs780124870",
"frequency_reference_population": 6.8487617e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84876e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20760703086853027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.3832,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.314,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003779.4",
"gene_symbol": "B4GALT3",
"hgnc_id": 926,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000535223.5",
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.238-1629C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}