← 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: 6-142773706-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142773706&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142773706,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006734.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "NM_006734.4",
"protein_id": "NP_006725.3",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367603.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006734.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000367603.8",
"protein_id": "ENSP00000356575.2",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006734.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367603.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "NM_001438449.1",
"protein_id": "NP_001425378.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438449.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "NM_001438450.1",
"protein_id": "NP_001425379.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438450.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "NM_001438451.1",
"protein_id": "NP_001425380.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438451.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000012134.7",
"protein_id": "ENSP00000012134.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000012134.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000367604.6",
"protein_id": "ENSP00000356576.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367604.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000703918.1",
"protein_id": "ENSP00000515552.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703918.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000859142.1",
"protein_id": "ENSP00000529201.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859142.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000932991.1",
"protein_id": "ENSP00000603050.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932991.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000932992.1",
"protein_id": "ENSP00000603051.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932992.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000932993.1",
"protein_id": "ENSP00000603052.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932993.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000932994.1",
"protein_id": "ENSP00000603053.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932994.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000949342.1",
"protein_id": "ENSP00000619401.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949342.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000474532.2",
"protein_id": "ENSP00000515553.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 1410,
"cds_start": 1033,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474532.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000703919.1",
"protein_id": "ENSP00000515554.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 711,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703919.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "ENST00000703920.1",
"protein_id": "ENSP00000515555.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 415,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703920.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_024446417.2",
"protein_id": "XP_024302185.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446417.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_024446419.2",
"protein_id": "XP_024302187.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446419.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418707.1",
"protein_id": "XP_047274663.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418707.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418708.1",
"protein_id": "XP_047274664.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418708.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418709.1",
"protein_id": "XP_047274665.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418709.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418710.1",
"protein_id": "XP_047274666.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418710.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418712.1",
"protein_id": "XP_047274668.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418712.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418714.1",
"protein_id": "XP_047274670.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418714.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418715.1",
"protein_id": "XP_047274671.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418715.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val",
"transcript": "XM_047418716.1",
"protein_id": "XP_047274672.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2446,
"cds_start": 1033,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418716.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1-5170A>G",
"hgvs_p": null,
"transcript": "ENST00000703916.1",
"protein_id": "ENSP00000515550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": null,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703916.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-1+2441A>G",
"hgvs_p": null,
"transcript": "ENST00000703917.1",
"protein_id": "ENSP00000515551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": null,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703917.1"
}
],
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"dbsnp": "rs141050437",
"frequency_reference_population": 0.0042685955,
"hom_count_reference_population": 54,
"allele_count_reference_population": 6890,
"gnomad_exomes_af": 0.00426317,
"gnomad_genomes_af": 0.00432065,
"gnomad_exomes_ac": 6232,
"gnomad_genomes_ac": 658,
"gnomad_exomes_homalt": 49,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002546161413192749,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.241,
"phylop100way_prediction": "Benign",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006734.4",
"gene_symbol": "HIVEP2",
"hgnc_id": 4921,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Ile345Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}