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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: 2-143436913-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=143436913&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 143436913,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_018460.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "NM_018460.4",
"protein_id": "NP_060930.3",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 475,
"cds_start": 574,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295095.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018460.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000295095.11",
"protein_id": "ENSP00000295095.6",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 475,
"cds_start": 574,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295095.11"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.655C>A",
"hgvs_p": "p.Pro219Thr",
"transcript": "ENST00000906468.1",
"protein_id": "ENSP00000576527.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 502,
"cds_start": 655,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906468.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000906471.1",
"protein_id": "ENSP00000576530.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 475,
"cds_start": 574,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906471.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000944446.1",
"protein_id": "ENSP00000614505.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 475,
"cds_start": 574,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944446.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000906469.1",
"protein_id": "ENSP00000576528.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 474,
"cds_start": 574,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906469.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "ENST00000906470.1",
"protein_id": "ENSP00000576529.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 442,
"cds_start": 574,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906470.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_047445109.1",
"protein_id": "XP_047301065.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 459,
"cds_start": 574,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445109.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Pro149Thr",
"transcript": "XM_017004500.3",
"protein_id": "XP_016859989.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 432,
"cds_start": 445,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004500.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_011511482.3",
"protein_id": "XP_011509784.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 416,
"cds_start": 574,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511482.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Pro114Thr",
"transcript": "XM_011511483.1",
"protein_id": "XP_011509785.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 397,
"cds_start": 340,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511483.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.208C>A",
"hgvs_p": "p.Pro70Thr",
"transcript": "XM_047445110.1",
"protein_id": "XP_047301066.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 353,
"cds_start": 208,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445110.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.193C>A",
"hgvs_p": "p.Pro65Thr",
"transcript": "XM_047445111.1",
"protein_id": "XP_047301067.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 348,
"cds_start": 193,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445111.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_011511484.2",
"protein_id": "XP_011509786.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 342,
"cds_start": 574,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511484.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_047445112.1",
"protein_id": "XP_047301068.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 341,
"cds_start": 574,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445112.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr",
"transcript": "XM_047445113.1",
"protein_id": "XP_047301069.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 338,
"cds_start": 574,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445113.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Pro149Thr",
"transcript": "XM_047445114.1",
"protein_id": "XP_047301070.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 298,
"cds_start": 445,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.-129C>A",
"hgvs_p": null,
"transcript": "XM_024453000.2",
"protein_id": "XP_024308768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453000.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "c.-129C>A",
"hgvs_p": null,
"transcript": "XM_024453000.2",
"protein_id": "XP_024308768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453000.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "n.305C>A",
"hgvs_p": null,
"transcript": "ENST00000469117.5",
"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": "pseudogene",
"feature": "ENST00000469117.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "n.124C>A",
"hgvs_p": null,
"transcript": "ENST00000548242.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000548242.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP15",
"gene_hgnc_id": 21030,
"hgvs_c": "n.437C>A",
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"feature": "ENST00000548800.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"biotype": "retained_intron",
"feature": "ENST00000548929.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"biotype": "retained_intron",
"feature": "ENST00000552641.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"non_coding_transcript_exon_variant"
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"exon_count": 15,
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"gene_symbol": "ARHGAP15",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007078554.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"hgvs_c": "n.52+43817G>T",
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"biotype": "pseudogene",
"feature": "ENST00000442794.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"biotype": "pseudogene",
"feature": "ENST00000546678.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ENSG00000228655",
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"transcript": "ENST00000549032.5",
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"biotype": "pseudogene",
"feature": "ENST00000549032.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "ENSG00000228655",
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"transcript": "ENST00000550516.1",
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"biotype": "pseudogene",
"feature": "ENST00000550516.1"
},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ENSG00000228655",
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"hgvs_c": "n.431+85056G>T",
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"transcript": "ENST00000651074.1",
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"biotype": "pseudogene",
"feature": "ENST00000651074.1"
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],
"gene_symbol": "ARHGAP15",
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"dbsnp": "rs780541707",
"frequency_reference_population": 0.000006222814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000618591,
"gnomad_genomes_af": 0.00000657592,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1473069190979004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.1583,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.162,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000370743189353116,
"dbscsnv_ada_prediction": "Benign",
"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_018460.4",
"gene_symbol": "ARHGAP15",
"hgnc_id": 21030,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.574C>A",
"hgvs_p": "p.Pro192Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000546678.1",
"gene_symbol": "ENSG00000228655",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.309-131453G>T",
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}
],
"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
}