← 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: 3-56732259-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56732259&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56732259,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001128615.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "NM_019555.3",
"protein_id": "NP_062455.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 526,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296315.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019555.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "ENST00000296315.8",
"protein_id": "ENSP00000296315.3",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 526,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019555.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296315.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro",
"transcript": "ENST00000338458.8",
"protein_id": "ENSP00000341071.4",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 558,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338458.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "ENST00000413728.6",
"protein_id": "ENSP00000410922.2",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413728.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "ENST00000495373.5",
"protein_id": "ENSP00000417986.1",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 416,
"cds_start": 1207,
"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": "ENST00000495373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "n.*572G>C",
"hgvs_p": null,
"transcript": "ENST00000465659.5",
"protein_id": "ENSP00000417810.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000465659.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "n.*572G>C",
"hgvs_p": null,
"transcript": "ENST00000465659.5",
"protein_id": "ENSP00000417810.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000465659.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro",
"transcript": "NM_001128615.2",
"protein_id": "NP_001122087.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 558,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128615.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro",
"transcript": "NM_001377407.1",
"protein_id": "NP_001364336.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 558,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377407.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1243G>C",
"hgvs_p": "p.Ala415Pro",
"transcript": "NM_001377408.1",
"protein_id": "NP_001364337.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 538,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377408.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1243G>C",
"hgvs_p": "p.Ala415Pro",
"transcript": "NM_001377409.1",
"protein_id": "NP_001364338.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 538,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377409.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1243G>C",
"hgvs_p": "p.Ala415Pro",
"transcript": "NM_001377410.1",
"protein_id": "NP_001364339.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 538,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377410.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000863032.1",
"protein_id": "ENSP00000533091.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 537,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863032.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "NM_001128616.2",
"protein_id": "NP_001122088.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128616.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "NM_001289698.2",
"protein_id": "NP_001276627.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289698.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "ENST00000496106.5",
"protein_id": "ENSP00000420420.1",
"transcript_support_level": 2,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496106.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Ala404Pro",
"transcript": "NM_001377411.1",
"protein_id": "NP_001364340.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 527,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377411.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Ala404Pro",
"transcript": "NM_001377412.1",
"protein_id": "NP_001364341.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 527,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377412.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1120G>C",
"hgvs_p": "p.Ala374Pro",
"transcript": "ENST00000497267.5",
"protein_id": "ENSP00000418826.1",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 497,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497267.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1099G>C",
"hgvs_p": "p.Ala367Pro",
"transcript": "ENST00000863034.1",
"protein_id": "ENSP00000533093.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 490,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863034.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1033G>C",
"hgvs_p": "p.Ala345Pro",
"transcript": "ENST00000863033.1",
"protein_id": "ENSP00000533092.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 468,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863033.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "NM_001377415.1",
"protein_id": "NP_001364344.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 416,
"cds_start": 1207,
"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": "NM_001377415.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro",
"transcript": "XM_047448222.1",
"protein_id": "XP_047304178.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 558,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448222.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro",
"transcript": "XM_047448223.1",
"protein_id": "XP_047304179.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 558,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448223.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro",
"transcript": "XM_047448224.1",
"protein_id": "XP_047304180.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 558,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448224.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1261G>C",
"hgvs_p": "p.Ala421Pro",
"transcript": "XM_011533764.2",
"protein_id": "XP_011532066.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 544,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533764.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Ala404Pro",
"transcript": "XM_047448225.1",
"protein_id": "XP_047304181.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 527,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448225.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1197+28G>C",
"hgvs_p": null,
"transcript": "NM_001377413.1",
"protein_id": "NP_001364342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377413.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1179+28G>C",
"hgvs_p": null,
"transcript": "NM_001377414.1",
"protein_id": "NP_001364343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377414.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1275+28G>C",
"hgvs_p": null,
"transcript": "XM_017006503.2",
"protein_id": "XP_016861992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006503.2"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1275+28G>C",
"hgvs_p": null,
"transcript": "XM_047448226.1",
"protein_id": "XP_047304182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448226.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"hgvs_c": "c.1197+28G>C",
"hgvs_p": null,
"transcript": "XM_047448227.1",
"protein_id": "XP_047304183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448227.1"
}
],
"gene_symbol": "ARHGEF3",
"gene_hgnc_id": 683,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.89615398645401,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.559,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001128615.2",
"gene_symbol": "ARHGEF3",
"hgnc_id": 683,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1303G>C",
"hgvs_p": "p.Ala435Pro"
}
],
"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
}