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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: 11-72692775-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72692775&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72692775,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001040118.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3965C>T",
"hgvs_p": "p.Pro1322Leu",
"transcript": "NM_001040118.3",
"protein_id": "NP_001035207.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393609.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040118.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3965C>T",
"hgvs_p": "p.Pro1322Leu",
"transcript": "ENST00000393609.8",
"protein_id": "ENSP00000377233.3",
"transcript_support_level": 2,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040118.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393609.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3245C>T",
"hgvs_p": "p.Pro1082Leu",
"transcript": "ENST00000393605.7",
"protein_id": "ENSP00000377230.3",
"transcript_support_level": 1,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3245,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393605.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3230C>T",
"hgvs_p": "p.Pro1077Leu",
"transcript": "ENST00000334211.12",
"protein_id": "ENSP00000335506.8",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3230,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334211.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3219+550C>T",
"hgvs_p": null,
"transcript": "ENST00000426523.5",
"protein_id": "ENSP00000392264.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1194,
"cds_start": null,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3036+550C>T",
"hgvs_p": null,
"transcript": "ENST00000429686.5",
"protein_id": "ENSP00000403127.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.1797+550C>T",
"hgvs_p": null,
"transcript": "ENST00000495878.5",
"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": "pseudogene",
"feature": "ENST00000495878.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3965C>T",
"hgvs_p": "p.Pro1322Leu",
"transcript": "ENST00000852596.1",
"protein_id": "ENSP00000522655.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852596.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3965C>T",
"hgvs_p": "p.Pro1322Leu",
"transcript": "ENST00000852598.1",
"protein_id": "ENSP00000522657.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852598.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3947C>T",
"hgvs_p": "p.Pro1316Leu",
"transcript": "ENST00000932332.1",
"protein_id": "ENSP00000602391.1",
"transcript_support_level": null,
"aa_start": 1316,
"aa_end": null,
"aa_length": 1444,
"cds_start": 3947,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932332.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3851C>T",
"hgvs_p": "p.Pro1284Leu",
"transcript": "ENST00000932333.1",
"protein_id": "ENSP00000602392.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932333.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3782C>T",
"hgvs_p": "p.Pro1261Leu",
"transcript": "ENST00000852595.1",
"protein_id": "ENSP00000522654.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1389,
"cds_start": 3782,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852595.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3782C>T",
"hgvs_p": "p.Pro1261Leu",
"transcript": "ENST00000932329.1",
"protein_id": "ENSP00000602388.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1389,
"cds_start": 3782,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932329.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3782C>T",
"hgvs_p": "p.Pro1261Leu",
"transcript": "ENST00000952695.1",
"protein_id": "ENSP00000622754.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1389,
"cds_start": 3782,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952695.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3230C>T",
"hgvs_p": "p.Pro1077Leu",
"transcript": "NM_015242.5",
"protein_id": "NP_056057.2",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3230,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015242.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3954+550C>T",
"hgvs_p": null,
"transcript": "ENST00000359373.9",
"protein_id": "ENSP00000352332.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
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"cds_length": 4320,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359373.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3840+550C>T",
"hgvs_p": null,
"transcript": "ENST00000932331.1",
"protein_id": "ENSP00000602390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1401,
"cds_start": null,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3765+556C>T",
"hgvs_p": null,
"transcript": "ENST00000932330.1",
"protein_id": "ENSP00000602389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1376,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3711+550C>T",
"hgvs_p": null,
"transcript": "ENST00000852597.1",
"protein_id": "ENSP00000522656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852597.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3219+550C>T",
"hgvs_p": null,
"transcript": "NM_001369489.1",
"protein_id": "NP_001356418.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3036+550C>T",
"hgvs_p": null,
"transcript": "NM_001135190.2",
"protein_id": "NP_001128662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135190.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.366+550C>T",
"hgvs_p": null,
"transcript": "ENST00000542596.5",
"protein_id": "ENSP00000441741.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.4630C>T",
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"transcript": "ENST00000465814.5",
"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": "ENST00000465814.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARAP1-AS1",
"gene_hgnc_id": 39993,
"hgvs_c": "n.348-993G>A",
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"transcript": "ENST00000542022.1",
"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": "ENST00000542022.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286555",
"gene_hgnc_id": null,
"hgvs_c": "n.441-2651G>A",
"hgvs_p": null,
"transcript": "ENST00000669205.1",
"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": "ENST00000669205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.3667+550C>T",
"hgvs_p": null,
"transcript": "NR_161388.1",
"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_161388.1"
}
],
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"dbsnp": "rs199961470",
"frequency_reference_population": 0.00013138569,
"hom_count_reference_population": 1,
"allele_count_reference_population": 212,
"gnomad_exomes_af": 0.00013891,
"gnomad_genomes_af": 0.0000591343,
"gnomad_exomes_ac": 203,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05696910619735718,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.837,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001040118.3",
"gene_symbol": "ARAP1",
"hgnc_id": 16925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3965C>T",
"hgvs_p": "p.Pro1322Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000669205.1",
"gene_symbol": "ENSG00000286555",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.441-2651G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000542022.1",
"gene_symbol": "ARAP1-AS1",
"hgnc_id": 39993,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.348-993G>A",
"hgvs_p": null
}
],
"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
}