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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: 17-49312785-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49312785&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49312785,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014897.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "NM_001145365.3",
"protein_id": "NP_001138837.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430262.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145365.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000430262.3",
"protein_id": "ENSP00000416305.2",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145365.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430262.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000362063.6",
"protein_id": "ENSP00000354686.2",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362063.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Ile",
"transcript": "ENST00000949719.1",
"protein_id": "ENSP00000619778.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 624,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949719.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "NM_014897.2",
"protein_id": "NP_055712.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014897.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000899841.1",
"protein_id": "ENSP00000569900.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899841.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000949717.1",
"protein_id": "ENSP00000619776.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949717.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000949718.1",
"protein_id": "ENSP00000619777.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949718.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000949720.1",
"protein_id": "ENSP00000619779.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949720.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000899842.1",
"protein_id": "ENSP00000569901.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 519,
"cds_start": 961,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899842.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000949721.1",
"protein_id": "ENSP00000619780.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 519,
"cds_start": 961,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949721.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "ENST00000899840.1",
"protein_id": "ENSP00000569899.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899840.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "ENST00000899843.1",
"protein_id": "ENSP00000569902.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899843.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "ENST00000899844.1",
"protein_id": "ENSP00000569903.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899844.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "ENST00000923162.1",
"protein_id": "ENSP00000593221.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923162.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "ENST00000923163.1",
"protein_id": "ENSP00000593222.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 339,
"cds_start": 421,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923163.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "XM_024450653.2",
"protein_id": "XP_024306421.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450653.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "XM_024450655.2",
"protein_id": "XP_024306423.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450655.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "XM_047435626.1",
"protein_id": "XP_047291582.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435626.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "XM_047435627.1",
"protein_id": "XP_047291583.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 606,
"cds_start": 961,
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"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435627.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "XM_024450656.2",
"protein_id": "XP_024306424.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450656.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "XM_047435628.1",
"protein_id": "XP_047291584.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435628.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "XM_047435629.1",
"protein_id": "XP_047291585.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 426,
"cds_start": 421,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435629.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "n.421G>A",
"hgvs_p": null,
"transcript": "ENST00000508237.5",
"protein_id": "ENSP00000424848.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508237.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "n.1145G>A",
"hgvs_p": null,
"transcript": "NR_135579.2",
"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_135579.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"hgvs_c": "n.1343G>A",
"hgvs_p": null,
"transcript": "XR_934423.3",
"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": "XR_934423.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FLJ40194",
"gene_hgnc_id": null,
"hgvs_c": "n.864-4806C>T",
"hgvs_p": null,
"transcript": "ENST00000655089.1",
"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": "ENST00000655089.1"
}
],
"gene_symbol": "ZNF652",
"gene_hgnc_id": 29147,
"dbsnp": "rs201894922",
"frequency_reference_population": 0.000016729951,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000171028,
"gnomad_genomes_af": 0.000013147,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49928417801856995,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.2554,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014897.2",
"gene_symbol": "ZNF652",
"hgnc_id": 29147,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000655089.1",
"gene_symbol": "FLJ40194",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.864-4806C>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
}