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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: 22-30286862-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30286862&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30286862,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001037666.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "NM_001037666.3",
"protein_id": "NP_001032755.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 329,
"cds_start": 592,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407689.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037666.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000407689.8",
"protein_id": "ENSP00000384183.4",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 329,
"cds_start": 592,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037666.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407689.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Ala387Thr",
"transcript": "ENST00000434291.5",
"protein_id": "ENSP00000401535.1",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 480,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434291.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.776G>A",
"hgvs_p": null,
"transcript": "ENST00000471480.6",
"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": "ENST00000471480.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.555G>A",
"hgvs_p": null,
"transcript": "ENST00000497605.6",
"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": "ENST00000497605.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Ala219Thr",
"transcript": "ENST00000865129.1",
"protein_id": "ENSP00000535188.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 350,
"cds_start": 655,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865129.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"transcript": "ENST00000865128.1",
"protein_id": "ENSP00000535187.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 330,
"cds_start": 595,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865128.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"transcript": "ENST00000865127.1",
"protein_id": "ENSP00000535186.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 292,
"cds_start": 595,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865127.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000404953.7",
"protein_id": "ENSP00000385868.3",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 291,
"cds_start": 592,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404953.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Ala151Thr",
"transcript": "ENST00000955197.1",
"protein_id": "ENSP00000625256.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 282,
"cds_start": 451,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955197.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "c.505+293G>A",
"hgvs_p": null,
"transcript": "ENST00000955196.1",
"protein_id": "ENSP00000625255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "n.*462G>A",
"hgvs_p": null,
"transcript": "ENST00000330168.9",
"protein_id": "ENSP00000331267.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000330168.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.*440G>A",
"hgvs_p": null,
"transcript": "ENST00000415484.5",
"protein_id": "ENSP00000416041.1",
"transcript_support_level": 5,
"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": "ENST00000415484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "n.*378G>A",
"hgvs_p": null,
"transcript": "ENST00000418047.5",
"protein_id": "ENSP00000400319.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.*392G>A",
"hgvs_p": null,
"transcript": "ENST00000421236.5",
"protein_id": "ENSP00000390869.1",
"transcript_support_level": 5,
"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": "ENST00000421236.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.*495G>A",
"hgvs_p": null,
"transcript": "ENST00000425691.5",
"protein_id": "ENSP00000408419.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000425691.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "n.*446G>A",
"hgvs_p": null,
"transcript": "ENST00000434987.5",
"protein_id": "ENSP00000415854.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434987.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "n.*378G>A",
"hgvs_p": null,
"transcript": "ENST00000447976.1",
"protein_id": "ENSP00000406516.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447976.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.629G>A",
"hgvs_p": null,
"transcript": "ENST00000463795.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463795.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "n.*462G>A",
"hgvs_p": null,
"transcript": "ENST00000330168.9",
"protein_id": "ENSP00000331267.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000330168.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"hgvs_c": "n.*440G>A",
"hgvs_p": null,
"transcript": "ENST00000415484.5",
"protein_id": "ENSP00000416041.1",
"transcript_support_level": 5,
"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": "ENST00000415484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248751",
"gene_hgnc_id": null,
"hgvs_c": "n.*378G>A",
"hgvs_p": null,
"transcript": "ENST00000418047.5",
"protein_id": "ENSP00000400319.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"intron_rank": null,
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"feature": "ENST00000421236.5"
},
{
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"protein_coding": false,
"strand": false,
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"feature": "ENST00000425691.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 13,
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"gene_symbol": "ENSG00000248751",
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"hgvs_c": "n.*446G>A",
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"transcript": "ENST00000434987.5",
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"feature": "ENST00000434987.5"
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "ENSG00000248751",
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"hgvs_c": "n.*378G>A",
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"transcript": "ENST00000447976.1",
"protein_id": "ENSP00000406516.1",
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"feature": "ENST00000447976.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CASTOR1",
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"transcript": "ENST00000440839.5",
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"feature": "ENST00000440839.5"
},
{
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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": "CASTOR1",
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"hgvs_c": "n.84+360G>A",
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"transcript": "ENST00000459785.1",
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"biotype": "pseudogene",
"feature": "ENST00000459785.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "CASTOR1",
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"hgvs_c": "n.*223G>A",
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"transcript": "ENST00000492159.5",
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"transcript_support_level": 5,
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"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": "ENST00000492159.5"
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],
"gene_symbol": "CASTOR1",
"gene_hgnc_id": 34423,
"dbsnp": "rs1929785772",
"frequency_reference_population": 0.000008054363,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000820865,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27082544565200806,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.1025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.903,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001037666.3",
"gene_symbol": "CASTOR1",
"hgnc_id": 34423,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434291.5",
"gene_symbol": "ENSG00000248751",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Ala387Thr"
}
],
"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
}