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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: 6-142753350-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142753350&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142753350,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_006734.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "NM_006734.4",
"protein_id": "NP_006725.3",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000367603.8",
"protein_id": "ENSP00000356575.2",
"transcript_support_level": 1,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "NM_001438449.1",
"protein_id": "NP_001425378.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "NM_001438450.1",
"protein_id": "NP_001425379.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "NM_001438451.1",
"protein_id": "NP_001425380.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000012134.7",
"protein_id": "ENSP00000012134.2",
"transcript_support_level": 5,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000367604.6",
"protein_id": "ENSP00000356576.1",
"transcript_support_level": 5,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000703918.1",
"protein_id": "ENSP00000515552.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000859142.1",
"protein_id": "ENSP00000529201.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000932991.1",
"protein_id": "ENSP00000603050.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000932992.1",
"protein_id": "ENSP00000603051.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000932993.1",
"protein_id": "ENSP00000603052.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000932994.1",
"protein_id": "ENSP00000603053.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "ENST00000949342.1",
"protein_id": "ENSP00000619401.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1911T>C",
"hgvs_p": "p.His637His",
"transcript": "ENST00000703916.1",
"protein_id": "ENSP00000515550.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 717,
"cds_start": 1911,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1911T>C",
"hgvs_p": "p.His637His",
"transcript": "ENST00000703917.1",
"protein_id": "ENSP00000515551.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 717,
"cds_start": 1911,
"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"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "XM_024446417.2",
"protein_id": "XP_024302185.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "XM_024446419.2",
"protein_id": "XP_024302187.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "XM_047418707.1",
"protein_id": "XP_047274663.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "XM_047418708.1",
"protein_id": "XP_047274664.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "XM_047418709.1",
"protein_id": "XP_047274665.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His",
"transcript": "XM_047418710.1",
"protein_id": "XP_047274666.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7098,
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{
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"protein_coding": true,
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],
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"exon_count": 11,
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},
{
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],
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"gene_symbol": "HIVEP2",
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"transcript": "XM_047418714.1",
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"feature": "XM_047418714.1"
},
{
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"gene_symbol": "HIVEP2",
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"transcript": "XM_047418715.1",
"protein_id": "XP_047274671.1",
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},
{
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"gene_symbol": "HIVEP2",
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},
{
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"intron_variant"
],
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"gene_symbol": "ENSG00000233138",
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"biotype": "pseudogene",
"feature": "ENST00000437067.1"
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],
"gene_symbol": "HIVEP2",
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"dbsnp": "rs1295329016",
"frequency_reference_population": 0.000002052284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205228,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.32,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006734.4",
"gene_symbol": "HIVEP2",
"hgnc_id": 4921,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7098T>C",
"hgvs_p": "p.His2366His"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000437067.1",
"gene_symbol": "ENSG00000233138",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.96-156A>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}