← 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: 11-72686100-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72686100&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72686100,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001040118.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4277G>A",
"hgvs_p": "p.Arg1426Gln",
"transcript": "NM_001040118.3",
"protein_id": "NP_001035207.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4277,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4277G>A",
"hgvs_p": "p.Arg1426Gln",
"transcript": "ENST00000393609.8",
"protein_id": "ENSP00000377233.3",
"transcript_support_level": 2,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4277,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3557G>A",
"hgvs_p": "p.Arg1186Gln",
"transcript": "ENST00000393605.7",
"protein_id": "ENSP00000377230.3",
"transcript_support_level": 1,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3557,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3542G>A",
"hgvs_p": "p.Arg1181Gln",
"transcript": "ENST00000334211.12",
"protein_id": "ENSP00000335506.8",
"transcript_support_level": 1,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3542,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3509G>A",
"hgvs_p": "p.Arg1170Gln",
"transcript": "ENST00000426523.5",
"protein_id": "ENSP00000392264.1",
"transcript_support_level": 1,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3509,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3326G>A",
"hgvs_p": "p.Arg1109Gln",
"transcript": "ENST00000429686.5",
"protein_id": "ENSP00000403127.1",
"transcript_support_level": 1,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3326,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.2087G>A",
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4277G>A",
"hgvs_p": "p.Arg1426Gln",
"transcript": "ENST00000852596.1",
"protein_id": "ENSP00000522655.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4277,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4277G>A",
"hgvs_p": "p.Arg1426Gln",
"transcript": "ENST00000852598.1",
"protein_id": "ENSP00000522657.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4277,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4259G>A",
"hgvs_p": "p.Arg1420Gln",
"transcript": "ENST00000932332.1",
"protein_id": "ENSP00000602391.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1444,
"cds_start": 4259,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4244G>A",
"hgvs_p": "p.Arg1415Gln",
"transcript": "ENST00000359373.9",
"protein_id": "ENSP00000352332.5",
"transcript_support_level": 2,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4244,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359373.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4163G>A",
"hgvs_p": "p.Arg1388Gln",
"transcript": "ENST00000932333.1",
"protein_id": "ENSP00000602392.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4163,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4130G>A",
"hgvs_p": "p.Arg1377Gln",
"transcript": "ENST00000932331.1",
"protein_id": "ENSP00000602390.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4130,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932331.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4094G>A",
"hgvs_p": "p.Arg1365Gln",
"transcript": "ENST00000852595.1",
"protein_id": "ENSP00000522654.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1389,
"cds_start": 4094,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4094G>A",
"hgvs_p": "p.Arg1365Gln",
"transcript": "ENST00000932329.1",
"protein_id": "ENSP00000602388.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1389,
"cds_start": 4094,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4094G>A",
"hgvs_p": "p.Arg1365Gln",
"transcript": "ENST00000952695.1",
"protein_id": "ENSP00000622754.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1389,
"cds_start": 4094,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4055G>A",
"hgvs_p": "p.Arg1352Gln",
"transcript": "ENST00000932330.1",
"protein_id": "ENSP00000602389.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1376,
"cds_start": 4055,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932330.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Arg1334Gln",
"transcript": "ENST00000852597.1",
"protein_id": "ENSP00000522656.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1358,
"cds_start": 4001,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852597.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3542G>A",
"hgvs_p": "p.Arg1181Gln",
"transcript": "NM_015242.5",
"protein_id": "NP_056057.2",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3542,
"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": "NM_015242.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3509G>A",
"hgvs_p": "p.Arg1170Gln",
"transcript": "NM_001369489.1",
"protein_id": "NP_001356418.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3509,
"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": "NM_001369489.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3326G>A",
"hgvs_p": "p.Arg1109Gln",
"transcript": "NM_001135190.2",
"protein_id": "NP_001128662.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3326,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"transcript": "ENST00000542596.5",
"protein_id": "ENSP00000441741.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 232,
"cds_start": 656,
"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": "R",
"aa_alt": "Q",
"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": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000536885.1",
"protein_id": "ENSP00000442746.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 177,
"cds_start": 233,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.4942G>A",
"hgvs_p": null,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.475G>A",
"hgvs_p": null,
"transcript": "ENST00000541623.5",
"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": "retained_intron",
"feature": "ENST00000541623.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.641G>A",
"hgvs_p": null,
"transcript": "ENST00000544721.5",
"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": "ENST00000544721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.3957G>A",
"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"
},
{
"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.347+679C>T",
"hgvs_p": null,
"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"
}
],
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"dbsnp": "rs776831611",
"frequency_reference_population": 0.000010945769,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109458,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2920752465724945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.2081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.037,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040118.3",
"gene_symbol": "ARAP1",
"hgnc_id": 16925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4277G>A",
"hgvs_p": "p.Arg1426Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000542022.1",
"gene_symbol": "ARAP1-AS1",
"hgnc_id": 39993,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.347+679C>T",
"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
}