← 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: 2-130152675-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130152675&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130152675,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017751.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2364C>G",
"hgvs_p": "p.Phe788Leu",
"transcript": "NM_017951.5",
"protein_id": "NP_060421.3",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 827,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680298.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017951.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2364C>G",
"hgvs_p": "p.Phe788Leu",
"transcript": "ENST00000680298.1",
"protein_id": "ENSP00000506463.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 827,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017951.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680298.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2481C>G",
"hgvs_p": "p.Phe827Leu",
"transcript": "ENST00000409031.5",
"protein_id": "ENSP00000386531.1",
"transcript_support_level": 1,
"aa_start": 827,
"aa_end": null,
"aa_length": 866,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2068C>G",
"hgvs_p": null,
"transcript": "ENST00000454468.5",
"protein_id": "ENSP00000407591.1",
"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": "ENST00000454468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.1304C>G",
"hgvs_p": null,
"transcript": "ENST00000491128.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000491128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2068C>G",
"hgvs_p": null,
"transcript": "ENST00000454468.5",
"protein_id": "ENSP00000407591.1",
"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": "ENST00000454468.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2415C>G",
"hgvs_p": "p.Phe805Leu",
"transcript": "ENST00000680679.1",
"protein_id": "ENSP00000505716.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 844,
"cds_start": 2415,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680679.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2394C>G",
"hgvs_p": "p.Phe798Leu",
"transcript": "NM_017751.4",
"protein_id": "NP_060221.2",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 837,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017751.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2394C>G",
"hgvs_p": "p.Phe798Leu",
"transcript": "ENST00000351288.10",
"protein_id": "ENSP00000259217.8",
"transcript_support_level": 2,
"aa_start": 798,
"aa_end": null,
"aa_length": 837,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351288.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2364C>G",
"hgvs_p": "p.Phe788Leu",
"transcript": "ENST00000883567.1",
"protein_id": "ENSP00000553626.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 827,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883567.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2364C>G",
"hgvs_p": "p.Phe788Leu",
"transcript": "ENST00000951021.1",
"protein_id": "ENSP00000621080.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 827,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951021.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Phe782Leu",
"transcript": "ENST00000883569.1",
"protein_id": "ENSP00000553628.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 821,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883569.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2235C>G",
"hgvs_p": "p.Phe745Leu",
"transcript": "ENST00000883570.1",
"protein_id": "ENSP00000553629.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 784,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883570.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2175C>G",
"hgvs_p": "p.Phe725Leu",
"transcript": "NM_001171083.2",
"protein_id": "NP_001164554.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 764,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171083.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2175C>G",
"hgvs_p": "p.Phe725Leu",
"transcript": "ENST00000431183.6",
"protein_id": "ENSP00000405187.2",
"transcript_support_level": 2,
"aa_start": 725,
"aa_end": null,
"aa_length": 764,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431183.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Phe716Leu",
"transcript": "ENST00000883568.1",
"protein_id": "ENSP00000553627.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 755,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883568.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2103C>G",
"hgvs_p": "p.Phe701Leu",
"transcript": "ENST00000439886.5",
"protein_id": "ENSP00000401648.1",
"transcript_support_level": 2,
"aa_start": 701,
"aa_end": null,
"aa_length": 740,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439886.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.1167C>G",
"hgvs_p": "p.Phe389Leu",
"transcript": "ENST00000680401.1",
"protein_id": "ENSP00000506367.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 428,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680401.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2715C>G",
"hgvs_p": "p.Phe905Leu",
"transcript": "XM_011511443.3",
"protein_id": "XP_011509745.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 944,
"cds_start": 2715,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511443.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2628C>G",
"hgvs_p": "p.Phe876Leu",
"transcript": "XM_011511444.4",
"protein_id": "XP_011509746.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 915,
"cds_start": 2628,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511444.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2088C>G",
"hgvs_p": "p.Phe696Leu",
"transcript": "XM_047444938.1",
"protein_id": "XP_047300894.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 735,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444938.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.1704C>G",
"hgvs_p": "p.Phe568Leu",
"transcript": "XM_024452978.2",
"protein_id": "XP_024308746.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 607,
"cds_start": 1704,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452978.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2051C>G",
"hgvs_p": null,
"transcript": "ENST00000412570.5",
"protein_id": "ENSP00000403002.1",
"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": "ENST00000412570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*1782C>G",
"hgvs_p": null,
"transcript": "ENST00000433118.5",
"protein_id": "ENSP00000397278.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000433118.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.3032C>G",
"hgvs_p": null,
"transcript": "ENST00000482171.5",
"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": "retained_intron",
"feature": "ENST00000482171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*1126C>G",
"hgvs_p": null,
"transcript": "ENST00000680810.1",
"protein_id": "ENSP00000505271.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*1471C>G",
"hgvs_p": null,
"transcript": "ENST00000680987.1",
"protein_id": "ENSP00000506346.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.2339C>G",
"hgvs_p": null,
"transcript": "NR_033231.3",
"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": "NR_033231.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.2319C>G",
"hgvs_p": null,
"transcript": "NR_033232.3",
"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": "NR_033232.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2051C>G",
"hgvs_p": null,
"transcript": "ENST00000412570.5",
"protein_id": "ENSP00000403002.1",
"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": "ENST00000412570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*1782C>G",
"hgvs_p": null,
"transcript": "ENST00000433118.5",
"protein_id": "ENSP00000397278.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000433118.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*1126C>G",
"hgvs_p": null,
"transcript": "ENST00000680810.1",
"protein_id": "ENSP00000505271.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*1471C>G",
"hgvs_p": null,
"transcript": "ENST00000680987.1",
"protein_id": "ENSP00000506346.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.*71C>G",
"hgvs_p": null,
"transcript": "ENST00000457039.6",
"protein_id": "ENSP00000397078.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457039.6"
}
],
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"dbsnp": "rs377045978",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04968762397766113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.3055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.057,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017751.4",
"gene_symbol": "SMPD4",
"hgnc_id": 32949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2394C>G",
"hgvs_p": "p.Phe798Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}