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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: 3-56621581-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56621581&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56621581,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353147.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2810C>T",
"hgvs_p": "p.Ala937Val",
"transcript": "NM_001141947.3",
"protein_id": "NP_001135419.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 948,
"cds_start": 2810,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394672.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141947.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2810C>T",
"hgvs_p": "p.Ala937Val",
"transcript": "ENST00000394672.8",
"protein_id": "ENSP00000378167.3",
"transcript_support_level": 1,
"aa_start": 937,
"aa_end": null,
"aa_length": 948,
"cds_start": 2810,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001141947.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394672.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2708C>T",
"hgvs_p": "p.Ala903Val",
"transcript": "ENST00000326595.11",
"protein_id": "ENSP00000326050.7",
"transcript_support_level": 1,
"aa_start": 903,
"aa_end": null,
"aa_length": 914,
"cds_start": 2708,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326595.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.*1456G>A",
"hgvs_p": null,
"transcript": "NM_001365635.2",
"protein_id": "NP_001352564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": null,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683822.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365635.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.*1456G>A",
"hgvs_p": null,
"transcript": "ENST00000683822.1",
"protein_id": "ENSP00000508241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": null,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365635.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.*1456G>A",
"hgvs_p": null,
"transcript": "ENST00000431842.6",
"protein_id": "ENSP00000399410.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": null,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431842.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.*2098C>T",
"hgvs_p": null,
"transcript": "ENST00000341455.10",
"protein_id": "ENSP00000343840.6",
"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": "ENST00000341455.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.3651G>A",
"hgvs_p": null,
"transcript": "ENST00000459993.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459993.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.*2098C>T",
"hgvs_p": null,
"transcript": "ENST00000341455.10",
"protein_id": "ENSP00000343840.6",
"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": "ENST00000341455.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2843C>T",
"hgvs_p": "p.Ala948Val",
"transcript": "ENST00000932971.1",
"protein_id": "ENSP00000603030.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 959,
"cds_start": 2843,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932971.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2828C>T",
"hgvs_p": "p.Ala943Val",
"transcript": "NM_001353147.1",
"protein_id": "NP_001340076.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 954,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353147.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2828C>T",
"hgvs_p": "p.Ala943Val",
"transcript": "ENST00000932966.1",
"protein_id": "ENSP00000603025.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 954,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932966.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2792C>T",
"hgvs_p": "p.Ala931Val",
"transcript": "NM_001353148.1",
"protein_id": "NP_001340077.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 942,
"cds_start": 2792,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353148.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2792C>T",
"hgvs_p": "p.Ala931Val",
"transcript": "ENST00000888356.1",
"protein_id": "ENSP00000558415.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 942,
"cds_start": 2792,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888356.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2789C>T",
"hgvs_p": "p.Ala930Val",
"transcript": "NM_001353149.1",
"protein_id": "NP_001340078.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 941,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353149.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2789C>T",
"hgvs_p": "p.Ala930Val",
"transcript": "ENST00000888358.1",
"protein_id": "ENSP00000558417.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 941,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888358.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2741C>T",
"hgvs_p": "p.Ala914Val",
"transcript": "NM_001353150.1",
"protein_id": "NP_001340079.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 925,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353150.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2741C>T",
"hgvs_p": "p.Ala914Val",
"transcript": "ENST00000932968.1",
"protein_id": "ENSP00000603027.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 925,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932968.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2720C>T",
"hgvs_p": "p.Ala907Val",
"transcript": "ENST00000932967.1",
"protein_id": "ENSP00000603026.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 918,
"cds_start": 2720,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932967.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2711C>T",
"hgvs_p": "p.Ala904Val",
"transcript": "NM_001353151.1",
"protein_id": "NP_001340080.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 915,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353151.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2708C>T",
"hgvs_p": "p.Ala903Val",
"transcript": "NM_001012506.5",
"protein_id": "NP_001012524.4",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 914,
"cds_start": 2708,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012506.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.2708C>T",
"hgvs_p": "p.Ala903Val",
"transcript": "NM_001353152.1",
"protein_id": "NP_001340081.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 914,
"cds_start": 2708,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CCDC66",
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"transcript": "NR_148374.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.2948C>T",
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"transcript": "NR_148375.1",
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148375.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
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"hgvs_c": "n.2961C>T",
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"transcript": "NR_148376.1",
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"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_148376.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
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"hgvs_c": "n.2910C>T",
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"transcript": "NR_148377.1",
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"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_148377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.2779C>T",
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"transcript": "NR_148378.1",
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"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_148378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.*1914C>T",
"hgvs_p": null,
"transcript": "ENST00000471681.5",
"protein_id": "ENSP00000420192.1",
"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": "ENST00000471681.5"
}
],
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"dbsnp": "rs775899143",
"frequency_reference_population": 0.000021235985,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000200144,
"gnomad_genomes_af": 0.000032874,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09213295578956604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.1032,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.898,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353147.1",
"gene_symbol": "CCDC66",
"hgnc_id": 27709,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2828C>T",
"hgvs_p": "p.Ala943Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365635.2",
"gene_symbol": "TASOR",
"hgnc_id": 30314,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1456G>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
}