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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: 8-67064421-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67064421&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67064421,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364869.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000262210.11",
"protein_id": "ENSP00000262210.6",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 1248,
"cds_start": 23,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262210.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.-128C>T",
"hgvs_p": null,
"transcript": "NM_001382391.1",
"protein_id": "NP_001369320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000678616.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.-128C>T",
"hgvs_p": null,
"transcript": "ENST00000678616.1",
"protein_id": "ENSP00000504733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382391.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678616.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000676605.1",
"protein_id": "ENSP00000503605.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1262,
"cds_start": 23,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676605.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000678542.1",
"protein_id": "ENSP00000503878.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1262,
"cds_start": 23,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678542.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000674993.1",
"protein_id": "ENSP00000502454.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1256,
"cds_start": 23,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674993.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "NM_001364869.1",
"protein_id": "NP_001351798.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1248,
"cds_start": 23,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364869.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "NM_024790.7",
"protein_id": "NP_079066.5",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1221,
"cds_start": 23,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024790.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000676317.1",
"protein_id": "ENSP00000502047.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1221,
"cds_start": 23,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676317.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000676847.1",
"protein_id": "ENSP00000503336.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1219,
"cds_start": 23,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676847.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000677592.1",
"protein_id": "ENSP00000504516.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1215,
"cds_start": 23,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677592.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "NM_001364870.1",
"protein_id": "NP_001351799.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1188,
"cds_start": 23,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364870.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000676882.1",
"protein_id": "ENSP00000504342.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1188,
"cds_start": 23,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676882.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "NM_001438330.1",
"protein_id": "NP_001425259.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1170,
"cds_start": 23,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438330.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000676471.1",
"protein_id": "ENSP00000503711.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1137,
"cds_start": 23,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676471.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "NM_001438331.1",
"protein_id": "NP_001425260.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1117,
"cds_start": 23,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438331.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000678318.1",
"protein_id": "ENSP00000503690.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1071,
"cds_start": 23,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678318.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000677009.1",
"protein_id": "ENSP00000503297.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1059,
"cds_start": 23,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677009.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "NM_001438332.1",
"protein_id": "NP_001425261.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 993,
"cds_start": 23,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438332.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000676573.1",
"protein_id": "ENSP00000504532.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 993,
"cds_start": 23,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676573.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "ENST00000678553.1",
"protein_id": "ENSP00000503747.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 633,
"cds_start": 23,
"cds_end": null,
"cds_length": 1903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678553.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val",
"transcript": "XM_011517598.3",
"protein_id": "XP_011515900.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1270,
"cds_start": 23,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"transcript": "ENST00000676567.1",
"protein_id": "ENSP00000503427.1",
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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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676567.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
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"hgvs_c": "n.-128C>T",
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"transcript": "ENST00000676858.1",
"protein_id": "ENSP00000502925.1",
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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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676858.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "n.-86C>T",
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"transcript": "ENST00000677845.1",
"protein_id": "ENSP00000503524.1",
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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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677845.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "n.*6C>T",
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"transcript": "ENST00000674647.1",
"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": "ENST00000674647.1"
}
],
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"dbsnp": "rs775895663",
"frequency_reference_population": 0.00004647675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.000049948,
"gnomad_genomes_af": 0.0000131415,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02377668023109436,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.2331,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.543,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001364869.1",
"gene_symbol": "CSPP1",
"hgnc_id": 26193,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ala8Val"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000517793.1",
"gene_symbol": "COPS5",
"hgnc_id": 2240,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.218G>A",
"hgvs_p": null
}
],
"clinvar_disease": "CSPP1-related disorder,Joubert syndrome 21",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Joubert syndrome 21|CSPP1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}