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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: 21-14964855-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=14964855&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 14964855,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003489.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_003489.4",
"protein_id": "NP_003480.2",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318948.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003489.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "ENST00000318948.7",
"protein_id": "ENSP00000327213.4",
"transcript_support_level": 2,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003489.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318948.7"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439275.1",
"protein_id": "NP_001426204.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439275.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439276.1",
"protein_id": "NP_001426205.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439276.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439277.1",
"protein_id": "NP_001426206.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439277.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439278.1",
"protein_id": "NP_001426207.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439278.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439279.1",
"protein_id": "NP_001426208.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439279.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439280.1",
"protein_id": "NP_001426209.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439280.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439281.1",
"protein_id": "NP_001426210.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439281.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439282.1",
"protein_id": "NP_001426211.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439282.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439283.1",
"protein_id": "NP_001426212.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439283.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439284.1",
"protein_id": "NP_001426213.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439284.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439285.1",
"protein_id": "NP_001426214.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439285.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439286.1",
"protein_id": "NP_001426215.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439286.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "NM_001439288.1",
"protein_id": "NP_001426217.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439288.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "ENST00000400199.5",
"protein_id": "ENSP00000383060.1",
"transcript_support_level": 3,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400199.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "ENST00000400202.5",
"protein_id": "ENSP00000383063.1",
"transcript_support_level": 5,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400202.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "XM_011529751.3",
"protein_id": "XP_011528053.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529751.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "XM_017028475.2",
"protein_id": "XP_016883964.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028475.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "XM_047440991.1",
"protein_id": "XP_047296947.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440991.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "XM_047440992.1",
"protein_id": "XP_047296948.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440992.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala",
"transcript": "XM_047440993.1",
"protein_id": "XP_047296949.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3338,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
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{
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{
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],
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"biotype": "pseudogene",
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{
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],
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{
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],
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"biotype": "pseudogene",
"feature": "ENST00000850670.1"
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],
"gene_symbol": "NRIP1",
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"dbsnp": "rs200662702",
"frequency_reference_population": 0.00006755903,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000698091,
"gnomad_genomes_af": 0.0000459692,
"gnomad_exomes_ac": 102,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22114348411560059,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1455,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.955,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003489.4",
"gene_symbol": "NRIP1",
"hgnc_id": 8001,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3338A>C",
"hgvs_p": "p.Glu1113Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715910.1",
"gene_symbol": "ASMER1",
"hgnc_id": 53135,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.107+78640A>C",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}