← 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: 2-200981670-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200981670&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HYCC2",
"hgnc_id": 28593,
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001321623.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000183308",
"hgnc_id": null,
"hgvs_c": "n.368+18040C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000413848.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105373835",
"hgnc_id": null,
"hgvs_c": "n.199+18040C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_187975.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 17,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0703,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05890607833862305,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9503,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321623.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000681958.1",
"protein_coding": true,
"protein_id": "NP_001308552.1",
"strand": false,
"transcript": "NM_001321623.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9503,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681958.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001321623.1",
"protein_coding": true,
"protein_id": "ENSP00000507218.1",
"strand": false,
"transcript": "ENST00000681958.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9333,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000418596.7",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393667.2",
"strand": false,
"transcript": "ENST00000418596.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000286181.7",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "n.*1114G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000286181.3",
"strand": false,
"transcript": "ENST00000286181.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000286181.7",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "n.*1114G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000286181.3",
"strand": false,
"transcript": "ENST00000286181.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9405,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321624.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308553.1",
"strand": false,
"transcript": "NM_001321624.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9659,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321625.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308554.1",
"strand": false,
"transcript": "NM_001321625.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9679,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321626.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308555.1",
"strand": false,
"transcript": "NM_001321626.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000861784.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531843.1",
"strand": false,
"transcript": "ENST00000861784.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000861786.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531845.1",
"strand": false,
"transcript": "ENST00000861786.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000861787.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531846.1",
"strand": false,
"transcript": "ENST00000861787.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861793.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531852.1",
"strand": false,
"transcript": "ENST00000861793.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861799.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531858.1",
"strand": false,
"transcript": "ENST00000861799.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861801.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531860.1",
"strand": false,
"transcript": "ENST00000861801.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861802.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531861.1",
"strand": false,
"transcript": "ENST00000861802.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861804.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531863.1",
"strand": false,
"transcript": "ENST00000861804.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 554,
"aa_ref": "S",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861791.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Ser422Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531850.1",
"strand": false,
"transcript": "ENST00000861791.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9237,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321618.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308547.1",
"strand": false,
"transcript": "NM_001321618.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9491,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321619.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308548.1",
"strand": false,
"transcript": "NM_001321619.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9393,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321621.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308550.1",
"strand": false,
"transcript": "NM_001321621.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9609,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321622.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308551.1",
"strand": false,
"transcript": "NM_001321622.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9335,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_173822.5",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_776183.1",
"strand": false,
"transcript": "NM_173822.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861781.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531840.1",
"strand": false,
"transcript": "ENST00000861781.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861782.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531841.1",
"strand": false,
"transcript": "ENST00000861782.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861783.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531842.1",
"strand": false,
"transcript": "ENST00000861783.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861788.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531847.1",
"strand": false,
"transcript": "ENST00000861788.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861789.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531848.1",
"strand": false,
"transcript": "ENST00000861789.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4103,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861790.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531849.1",
"strand": false,
"transcript": "ENST00000861790.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861794.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531853.1",
"strand": false,
"transcript": "ENST00000861794.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861795.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531854.1",
"strand": false,
"transcript": "ENST00000861795.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861797.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531856.1",
"strand": false,
"transcript": "ENST00000861797.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861798.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531857.1",
"strand": false,
"transcript": "ENST00000861798.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861800.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531859.1",
"strand": false,
"transcript": "ENST00000861800.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000944415.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614474.1",
"strand": false,
"transcript": "ENST00000944415.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000944416.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614475.1",
"strand": false,
"transcript": "ENST00000944416.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000944417.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614476.1",
"strand": false,
"transcript": "ENST00000944417.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000944418.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614477.1",
"strand": false,
"transcript": "ENST00000944418.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 504,
"aa_ref": "S",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9559,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001321627.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1115G>C",
"hgvs_p": "p.Ser372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308556.1",
"strand": false,
"transcript": "NM_001321627.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 504,
"aa_ref": "S",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9715,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001321628.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1115G>C",
"hgvs_p": "p.Ser372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308557.1",
"strand": false,
"transcript": "NM_001321628.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 503,
"aa_ref": "S",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861796.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1112G>C",
"hgvs_p": "p.Ser371Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531855.1",
"strand": false,
"transcript": "ENST00000861796.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861803.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Ser366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531862.1",
"strand": false,
"transcript": "ENST00000861803.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944413.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Ser366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614472.1",
"strand": false,
"transcript": "ENST00000944413.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944414.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Ser366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614473.1",
"strand": false,
"transcript": "ENST00000944414.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861792.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Ser338Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531851.1",
"strand": false,
"transcript": "ENST00000861792.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 448,
"aa_ref": "S",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9391,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1347,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321629.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.947G>C",
"hgvs_p": "p.Ser316Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308558.1",
"strand": false,
"transcript": "NM_001321629.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 432,
"aa_ref": "S",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1299,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000861785.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Ser300Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531844.1",
"strand": false,
"transcript": "ENST00000861785.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9561,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006712443.4",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712506.1",
"strand": false,
"transcript": "XM_006712443.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9777,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017003879.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859368.1",
"strand": false,
"transcript": "XM_017003879.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10152,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017003880.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859369.1",
"strand": false,
"transcript": "XM_017003880.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9756,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047444002.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Ser454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299958.1",
"strand": false,
"transcript": "XM_047444002.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11124,
"cdna_start": 3172,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017003881.2",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859370.1",
"strand": false,
"transcript": "XM_017003881.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9588,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047444003.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299959.1",
"strand": false,
"transcript": "XM_047444003.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9984,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047444004.1",
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Ser398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299960.1",
"strand": false,
"transcript": "XM_047444004.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413848.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.368+18040C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000413848.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831782.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.586+18040C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000831782.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831783.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.222+18040C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000831783.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 463,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831784.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.185+18040C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000831784.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 317,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831785.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.44+18539C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000831785.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831786.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.222+18040C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000831786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 824,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831787.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000183308",
"hgvs_c": "n.368+18040C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000831787.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3598,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_187975.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105373835",
"hgvs_c": "n.199+18040C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_187975.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_187976.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC105373835",
"hgvs_c": "n.199+18040C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_187976.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs751338575",
"effect": "missense_variant",
"frequency_reference_population": 0.000010532446,
"gene_hgnc_id": 28593,
"gene_symbol": "HYCC2",
"gnomad_exomes_ac": 15,
"gnomad_exomes_af": 0.0000102607,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131427,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.672,
"pos": 200981670,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.13,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001321623.1"
}
]
}