← 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: 2-200981406-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200981406&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200981406,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321623.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "NM_001321623.1",
"protein_id": "NP_001308552.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000681958.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321623.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000681958.1",
"protein_id": "ENSP00000507218.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321623.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681958.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000418596.7",
"protein_id": "ENSP00000393667.2",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418596.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "n.*1378G>A",
"hgvs_p": null,
"transcript": "ENST00000286181.7",
"protein_id": "ENSP00000286181.3",
"transcript_support_level": 1,
"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": "ENST00000286181.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "n.*1378G>A",
"hgvs_p": null,
"transcript": "ENST00000286181.7",
"protein_id": "ENSP00000286181.3",
"transcript_support_level": 1,
"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": "ENST00000286181.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "NM_001321624.1",
"protein_id": "NP_001308553.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321624.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "NM_001321625.2",
"protein_id": "NP_001308554.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321625.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "NM_001321626.2",
"protein_id": "NP_001308555.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321626.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861784.1",
"protein_id": "ENSP00000531843.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861784.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861786.1",
"protein_id": "ENSP00000531845.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861786.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861787.1",
"protein_id": "ENSP00000531846.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861787.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861793.1",
"protein_id": "ENSP00000531852.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861793.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861799.1",
"protein_id": "ENSP00000531858.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861799.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861801.1",
"protein_id": "ENSP00000531860.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861801.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861802.1",
"protein_id": "ENSP00000531861.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861802.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "ENST00000861804.1",
"protein_id": "ENSP00000531863.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861804.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510Gln",
"transcript": "ENST00000861791.1",
"protein_id": "ENSP00000531850.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 554,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861791.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "NM_001321618.1",
"protein_id": "NP_001308547.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321618.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "NM_001321619.2",
"protein_id": "NP_001308548.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321619.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "NM_001321621.2",
"protein_id": "NP_001308550.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321621.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "NM_001321622.2",
"protein_id": "NP_001308551.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321622.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "NM_173822.5",
"protein_id": "NP_776183.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173822.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861781.1",
"protein_id": "ENSP00000531840.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861781.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861782.1",
"protein_id": "ENSP00000531841.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861782.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861783.1",
"protein_id": "ENSP00000531842.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861783.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861788.1",
"protein_id": "ENSP00000531847.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861788.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861789.1",
"protein_id": "ENSP00000531848.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861789.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861790.1",
"protein_id": "ENSP00000531849.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861790.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861794.1",
"protein_id": "ENSP00000531853.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861794.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861795.1",
"protein_id": "ENSP00000531854.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861795.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861797.1",
"protein_id": "ENSP00000531856.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861797.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861798.1",
"protein_id": "ENSP00000531857.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861798.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000861800.1",
"protein_id": "ENSP00000531859.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861800.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000944415.1",
"protein_id": "ENSP00000614474.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944415.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000944416.1",
"protein_id": "ENSP00000614475.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944416.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000944417.1",
"protein_id": "ENSP00000614476.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944417.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "ENST00000944418.1",
"protein_id": "ENSP00000614477.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944418.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001321627.1",
"protein_id": "NP_001308556.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321627.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001321628.2",
"protein_id": "NP_001308557.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321628.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Arg459Gln",
"transcript": "ENST00000861796.1",
"protein_id": "ENSP00000531855.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 503,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861796.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454Gln",
"transcript": "ENST00000861803.1",
"protein_id": "ENSP00000531862.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 498,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861803.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454Gln",
"transcript": "ENST00000944413.1",
"protein_id": "ENSP00000614472.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 498,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944413.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454Gln",
"transcript": "ENST00000944414.1",
"protein_id": "ENSP00000614473.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 498,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944414.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "ENST00000861792.1",
"protein_id": "ENSP00000531851.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 470,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861792.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Gln",
"transcript": "NM_001321629.1",
"protein_id": "NP_001308558.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 448,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321629.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"transcript": "ENST00000861785.1",
"protein_id": "ENSP00000531844.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 432,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861785.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "XM_006712443.4",
"protein_id": "XP_006712506.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712443.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "XM_017003879.2",
"protein_id": "XP_016859368.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003879.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "XM_017003880.2",
"protein_id": "XP_016859369.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003880.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln",
"transcript": "XM_047444002.1",
"protein_id": "XP_047299958.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 586,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444002.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "XM_017003881.2",
"protein_id": "XP_016859370.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003881.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "XM_047444003.1",
"protein_id": "XP_047299959.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444003.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486Gln",
"transcript": "XM_047444004.1",
"protein_id": "XP_047299960.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 530,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.368+17776C>T",
"hgvs_p": null,
"transcript": "ENST00000413848.1",
"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": "ENST00000413848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.586+17776C>T",
"hgvs_p": null,
"transcript": "ENST00000831782.1",
"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": "ENST00000831782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.222+17776C>T",
"hgvs_p": null,
"transcript": "ENST00000831783.1",
"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": "ENST00000831783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.185+17776C>T",
"hgvs_p": null,
"transcript": "ENST00000831784.1",
"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": "ENST00000831784.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.44+18275C>T",
"hgvs_p": null,
"transcript": "ENST00000831785.1",
"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": "ENST00000831785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.222+17776C>T",
"hgvs_p": null,
"transcript": "ENST00000831786.1",
"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": "ENST00000831786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183308",
"gene_hgnc_id": null,
"hgvs_c": "n.368+17776C>T",
"hgvs_p": null,
"transcript": "ENST00000831787.1",
"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": "ENST00000831787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105373835",
"gene_hgnc_id": null,
"hgvs_c": "n.199+17776C>T",
"hgvs_p": null,
"transcript": "NR_187975.1",
"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": "NR_187975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105373835",
"gene_hgnc_id": null,
"hgvs_c": "n.199+17776C>T",
"hgvs_p": null,
"transcript": "NR_187976.1",
"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": "NR_187976.1"
}
],
"gene_symbol": "HYCC2",
"gene_hgnc_id": 28593,
"dbsnp": "rs958575569",
"frequency_reference_population": 0.0000043370133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410439,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7388415336608887,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.7,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1372,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.818,
"phylop100way_prediction": "Uncertain_significance",
"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_001321623.1",
"gene_symbol": "HYCC2",
"hgnc_id": 28593,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000413848.1",
"gene_symbol": "ENSG00000183308",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.368+17776C>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_187975.1",
"gene_symbol": "LOC105373835",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.199+17776C>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
}