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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-52290363-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52290363&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52290363,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_145262.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "NM_145262.4",
"protein_id": "NP_660305.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436784.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145262.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000436784.7",
"protein_id": "ENSP00000389175.2",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145262.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436784.7"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000477382.2",
"protein_id": "ENSP00000419008.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 234,
"cds_start": 21,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477382.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000473032.5",
"protein_id": "ENSP00000418951.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 205,
"cds_start": 21,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473032.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.290C>T",
"hgvs_p": null,
"transcript": "ENST00000473583.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000473583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.21C>T",
"hgvs_p": null,
"transcript": "ENST00000486393.5",
"protein_id": "ENSP00000419868.1",
"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": "ENST00000486393.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "NM_001437621.1",
"protein_id": "NP_001424550.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437621.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000863513.1",
"protein_id": "ENSP00000533572.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863513.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000863514.1",
"protein_id": "ENSP00000533573.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863514.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000863515.1",
"protein_id": "ENSP00000533574.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863515.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000863516.1",
"protein_id": "ENSP00000533575.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863516.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000863517.1",
"protein_id": "ENSP00000533576.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 523,
"cds_start": 21,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863517.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "ENST00000969819.1",
"protein_id": "ENSP00000639878.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 496,
"cds_start": 21,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969819.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "NM_001144951.2",
"protein_id": "NP_001138423.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 234,
"cds_start": 21,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144951.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "NM_001437622.1",
"protein_id": "NP_001424551.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 234,
"cds_start": 21,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437622.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "XM_047447465.1",
"protein_id": "XP_047303421.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447465.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val",
"transcript": "XM_047447466.1",
"protein_id": "XP_047303422.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 21,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.126-597C>T",
"hgvs_p": null,
"transcript": "ENST00000461183.5",
"protein_id": "ENSP00000417264.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461183.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.-4-597C>T",
"hgvs_p": null,
"transcript": "ENST00000471180.5",
"protein_id": "ENSP00000417526.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471180.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.-4-597C>T",
"hgvs_p": null,
"transcript": "XM_017005730.2",
"protein_id": "XP_016861219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005730.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "c.-4-597C>T",
"hgvs_p": null,
"transcript": "XM_047447467.1",
"protein_id": "XP_047303423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"hgvs_c": "n.109C>T",
"hgvs_p": null,
"transcript": "NR_026699.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026699.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"biotype": "pseudogene",
"feature": "NR_026701.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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],
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"exon_count": 5,
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"biotype": "pseudogene",
"feature": "NR_026702.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "GLYCTK",
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"biotype": "pseudogene",
"feature": "NR_199363.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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"exon_count": 3,
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"gene_symbol": "GLYCTK",
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"biotype": "pseudogene",
"feature": "NR_199365.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "GLYCTK-AS1",
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"feature": "ENST00000493616.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "GLYCTK-AS1",
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{
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"strand": false,
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "GLYCTK-AS1",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "GLYCTK",
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"feature": "NR_026700.2"
},
{
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"intron_variant"
],
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"gene_symbol": "GLYCTK",
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"transcript": "NR_199364.1",
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"biotype": "pseudogene",
"feature": "NR_199364.1"
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],
"gene_symbol": "GLYCTK",
"gene_hgnc_id": 24247,
"dbsnp": "rs3796344",
"frequency_reference_population": 0.00025886358,
"hom_count_reference_population": 1,
"allele_count_reference_population": 414,
"gnomad_exomes_af": 0.00024742,
"gnomad_genomes_af": 0.000367531,
"gnomad_exomes_ac": 358,
"gnomad_genomes_ac": 56,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.871,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_145262.4",
"gene_symbol": "GLYCTK",
"hgnc_id": 24247,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Val7Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000493616.2",
"gene_symbol": "GLYCTK-AS1",
"hgnc_id": 41043,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.501-1639G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}