← 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: 19-37127812-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37127812&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 37127812,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001329515.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "NM_144689.5",
"protein_id": "NP_653290.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337995.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144689.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000337995.4",
"protein_id": "ENSP00000338770.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144689.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337995.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267360",
"gene_hgnc_id": null,
"hgvs_c": "c.253+28053G>C",
"hgvs_p": null,
"transcript": "ENST00000588873.1",
"protein_id": "ENSP00000465212.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588873.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "NM_001329515.3",
"protein_id": "NP_001316444.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 704,
"cds_start": 821,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329515.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000876809.1",
"protein_id": "ENSP00000546868.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876809.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000876810.1",
"protein_id": "ENSP00000546869.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876810.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000876811.1",
"protein_id": "ENSP00000546870.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876811.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000960579.1",
"protein_id": "ENSP00000630638.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960579.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000960580.1",
"protein_id": "ENSP00000630639.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960580.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "NM_001329516.3",
"protein_id": "NP_001316445.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 648,
"cds_start": 821,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329516.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "NM_001329517.1",
"protein_id": "NP_001316446.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329517.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "NM_001329518.1",
"protein_id": "NP_001316447.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329518.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "NM_001329519.1",
"protein_id": "NP_001316448.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329519.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "NM_001329520.1",
"protein_id": "NP_001316449.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329520.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "NM_001329521.3",
"protein_id": "NP_001316450.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 577,
"cds_start": 608,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329521.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "NM_001329522.3",
"protein_id": "NP_001316451.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 536,
"cds_start": 821,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329522.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "ENST00000304239.11",
"protein_id": "ENSP00000306102.7",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 536,
"cds_start": 821,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304239.11"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "NM_001329524.3",
"protein_id": "NP_001316453.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 409,
"cds_start": 608,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329524.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_011526503.3",
"protein_id": "XP_011524805.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526503.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_011526504.3",
"protein_id": "XP_011524806.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526504.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_047438229.1",
"protein_id": "XP_047294185.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438229.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_047438230.1",
"protein_id": "XP_047294186.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 688,
"cds_start": 821,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438230.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_006723038.4",
"protein_id": "XP_006723101.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 648,
"cds_start": 821,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723038.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "XM_011526507.4",
"protein_id": "XP_011524809.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526507.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "XM_011526508.3",
"protein_id": "XP_011524810.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526508.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "XM_011526510.3",
"protein_id": "XP_011524812.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526510.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "XM_017026338.2",
"protein_id": "XP_016881827.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 617,
"cds_start": 608,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026338.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Thr203Ser",
"transcript": "XM_047438231.1",
"protein_id": "XP_047294187.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 577,
"cds_start": 608,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438231.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_011526511.3",
"protein_id": "XP_011524813.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 480,
"cds_start": 821,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526511.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser",
"transcript": "XM_047438232.1",
"protein_id": "XP_047294188.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 480,
"cds_start": 821,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF585A",
"gene_hgnc_id": 26305,
"hgvs_c": "n.338-12647G>C",
"hgvs_p": null,
"transcript": "ENST00000587817.5",
"protein_id": "ENSP00000466825.1",
"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": "ENST00000587817.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF585A",
"gene_hgnc_id": 26305,
"hgvs_c": "n.503-12647G>C",
"hgvs_p": null,
"transcript": "ENST00000588723.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000588723.5"
}
],
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"dbsnp": "rs143337806",
"frequency_reference_population": 0.0000013682248,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136822,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18998831510543823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.1127,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.213,
"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": 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_001329515.3",
"gene_symbol": "ZNF420",
"hgnc_id": 20649,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821C>G",
"hgvs_p": "p.Thr274Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588873.1",
"gene_symbol": "ENSG00000267360",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.253+28053G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000587817.5",
"gene_symbol": "ZNF585A",
"hgnc_id": 26305,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.338-12647G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}