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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: 8-48724801-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=48724801&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 48724801,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_024593.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "NM_024593.4",
"protein_id": "NP_078869.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": "ENST00000262103.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024593.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "ENST00000262103.8",
"protein_id": "ENSP00000262103.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": "NM_024593.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262103.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "n.*209A>T",
"hgvs_p": null,
"transcript": "ENST00000521701.5",
"protein_id": "ENSP00000430374.1",
"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": 920,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521701.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "n.*209A>T",
"hgvs_p": null,
"transcript": "ENST00000521701.5",
"protein_id": "ENSP00000430374.1",
"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": 920,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521701.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "n.362+4241A>T",
"hgvs_p": null,
"transcript": "ENST00000521002.5",
"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": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521002.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "ENST00000872856.1",
"protein_id": "ENSP00000542915.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872856.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "ENST00000872857.1",
"protein_id": "ENSP00000542916.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872857.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "ENST00000945699.1",
"protein_id": "ENSP00000615758.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945699.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.421A>T",
"hgvs_p": "p.Ser141Cys",
"transcript": "NM_001142857.2",
"protein_id": "NP_001136329.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 421,
"cds_end": null,
"cds_length": 480,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142857.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.421A>T",
"hgvs_p": "p.Ser141Cys",
"transcript": "NM_001363973.3",
"protein_id": "NP_001350902.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 421,
"cds_end": null,
"cds_length": 480,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363973.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.421A>T",
"hgvs_p": "p.Ser141Cys",
"transcript": "NM_001363974.2",
"protein_id": "NP_001350903.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 421,
"cds_end": null,
"cds_length": 480,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363974.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.421A>T",
"hgvs_p": "p.Ser141Cys",
"transcript": "ENST00000433756.1",
"protein_id": "ENSP00000400873.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 421,
"cds_end": null,
"cds_length": 480,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433756.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.421A>T",
"hgvs_p": "p.Ser141Cys",
"transcript": "ENST00000523092.5",
"protein_id": "ENSP00000430765.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 421,
"cds_end": null,
"cds_length": 480,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523092.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.421A>T",
"hgvs_p": "p.Ser141Cys",
"transcript": "ENST00000872858.1",
"protein_id": "ENSP00000542917.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 159,
"cds_start": 421,
"cds_end": null,
"cds_length": 480,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872858.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.328A>T",
"hgvs_p": "p.Ser110Cys",
"transcript": "ENST00000522254.5",
"protein_id": "ENSP00000430940.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 128,
"cds_start": 328,
"cds_end": null,
"cds_length": 387,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522254.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Ser59Cys",
"transcript": "ENST00000523008.5",
"protein_id": "ENSP00000429644.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 77,
"cds_start": 175,
"cds_end": null,
"cds_length": 234,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523008.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "XM_005251303.2",
"protein_id": "XP_005251360.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251303.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys",
"transcript": "XM_011517589.2",
"protein_id": "XP_011515891.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 211,
"cds_start": 577,
"cds_end": null,
"cds_length": 636,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517589.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.391A>T",
"hgvs_p": "p.Ser131Cys",
"transcript": "XM_011517591.3",
"protein_id": "XP_011515893.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 149,
"cds_start": 391,
"cds_end": null,
"cds_length": 450,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517591.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.391A>T",
"hgvs_p": "p.Ser131Cys",
"transcript": "XM_017013827.2",
"protein_id": "XP_016869316.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 149,
"cds_start": 391,
"cds_end": null,
"cds_length": 450,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013827.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "c.391A>T",
"hgvs_p": "p.Ser131Cys",
"transcript": "XM_047422231.1",
"protein_id": "XP_047278187.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 149,
"cds_start": 391,
"cds_end": null,
"cds_length": 450,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"hgvs_c": "n.512A>T",
"hgvs_p": null,
"transcript": "ENST00000519425.1",
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"aa_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000519425.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CLXN",
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"hgvs_c": "n.491A>T",
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"transcript": "NR_024605.3",
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"aa_end": null,
"aa_length": null,
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"cdna_length": 1820,
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"biotype": "pseudogene",
"feature": "NR_024605.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CLXN",
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"hgvs_c": "n.534A>T",
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"transcript": "NR_157026.1",
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"aa_end": null,
"aa_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157026.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000253608",
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"hgvs_c": "n.216-4966T>A",
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"transcript": "ENST00000741107.1",
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"cds_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000741107.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "CLXN",
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"hgvs_c": "n.396+4241A>T",
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"transcript": "NR_157027.2",
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"cdna_length": 1695,
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"biotype": "pseudogene",
"feature": "NR_157027.2"
}
],
"gene_symbol": "CLXN",
"gene_hgnc_id": 25678,
"dbsnp": "rs151203916",
"frequency_reference_population": 0.000023598117,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000102872,
"gnomad_genomes_af": 0.000151137,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03319239616394043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.21400000154972076,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0737,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.002,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0205419850072472,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024593.4",
"gene_symbol": "CLXN",
"hgnc_id": 25678,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Ser193Cys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000741107.1",
"gene_symbol": "ENSG00000253608",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.216-4966T>A",
"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
}