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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: 22-31088523-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31088523&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31088523,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382642.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_134269.3",
"protein_id": "NP_599031.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 915,
"cds_start": 211,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333137.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134269.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000333137.12",
"protein_id": "ENSP00000329532.7",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 915,
"cds_start": 211,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_134269.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333137.12"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000347557.6",
"protein_id": "ENSP00000328635.5",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 917,
"cds_start": 211,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347557.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Trp",
"transcript": "NM_001382642.1",
"protein_id": "NP_001369571.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1009,
"cds_start": 493,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382642.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "NM_001207017.1",
"protein_id": "NP_001193946.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 1002,
"cds_start": 373,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207017.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "ENST00000619644.5",
"protein_id": "ENSP00000484398.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 1002,
"cds_start": 373,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619644.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "NM_001207018.2",
"protein_id": "NP_001193947.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 971,
"cds_start": 379,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207018.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "ENST00000612341.4",
"protein_id": "ENSP00000479578.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 971,
"cds_start": 379,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612341.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "NM_001382643.1",
"protein_id": "NP_001369572.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 969,
"cds_start": 373,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382643.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "NM_001382644.1",
"protein_id": "NP_001369573.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 969,
"cds_start": 373,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382644.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "ENST00000440425.6",
"protein_id": "ENSP00000401341.2",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 968,
"cds_start": 373,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440425.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000951812.1",
"protein_id": "ENSP00000621871.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 951,
"cds_start": 211,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951812.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_001382645.1",
"protein_id": "NP_001369574.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 946,
"cds_start": 211,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382645.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000897101.1",
"protein_id": "ENSP00000567160.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 946,
"cds_start": 211,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897101.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000897102.1",
"protein_id": "ENSP00000567161.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 946,
"cds_start": 211,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897102.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_134270.3",
"protein_id": "NP_599032.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 940,
"cds_start": 211,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134270.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000358743.5",
"protein_id": "ENSP00000351593.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 940,
"cds_start": 211,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358743.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "ENST00000897104.1",
"protein_id": "ENSP00000567163.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 925,
"cds_start": 211,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897104.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_006932.5",
"protein_id": "NP_008863.3",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 917,
"cds_start": 211,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006932.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_001382638.1",
"protein_id": "NP_001369567.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 915,
"cds_start": 211,
"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": "NM_001382638.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_001382639.1",
"protein_id": "NP_001369568.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 915,
"cds_start": 211,
"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": "NM_001382639.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Trp",
"transcript": "NM_001382640.1",
"protein_id": "NP_001369569.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 915,
"cds_start": 211,
"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": "NM_001382640.1"
},
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"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.487C>T",
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"transcript": "ENST00000489337.5",
"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": "ENST00000489337.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.420C>T",
"hgvs_p": null,
"transcript": "NR_168472.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "NR_168473.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "NR_168474.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "NR_168475.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168475.1"
}
],
"gene_symbol": "SMTN",
"gene_hgnc_id": 11126,
"dbsnp": "rs1436277839",
"frequency_reference_population": 0.0000037188731,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342174,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18249446153640747,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.1109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.268,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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_001382642.1",
"gene_symbol": "SMTN",
"hgnc_id": 11126,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}