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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: 2-178834364-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178834364&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178834364,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173648.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "NM_173648.4",
"protein_id": "NP_775919.3",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443758.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173648.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "ENST00000443758.7",
"protein_id": "ENSP00000390190.2",
"transcript_support_level": 5,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173648.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443758.7"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "ENST00000922698.1",
"protein_id": "ENSP00000592757.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922698.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4222A>T",
"hgvs_p": "p.Ile1408Phe",
"transcript": "ENST00000894515.1",
"protein_id": "ENSP00000564574.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
"aa_length": 1470,
"cds_start": 4222,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894515.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4619A>T",
"hgvs_p": "p.His1540Leu",
"transcript": "XM_011510991.4",
"protein_id": "XP_011509293.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1558,
"cds_start": 4619,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510991.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4619A>T",
"hgvs_p": "p.His1540Leu",
"transcript": "XM_047443983.1",
"protein_id": "XP_047299939.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1558,
"cds_start": 4619,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443983.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4616A>T",
"hgvs_p": "p.His1539Leu",
"transcript": "XM_047443984.1",
"protein_id": "XP_047299940.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1557,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443984.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4619A>T",
"hgvs_p": "p.His1540Leu",
"transcript": "XM_011510992.4",
"protein_id": "XP_011509294.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4619,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510992.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4619A>T",
"hgvs_p": "p.His1540Leu",
"transcript": "XM_047443985.1",
"protein_id": "XP_047299941.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4619,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443985.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4619A>T",
"hgvs_p": "p.His1540Leu",
"transcript": "XM_047443986.1",
"protein_id": "XP_047299942.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4619,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443986.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4399A>T",
"hgvs_p": "p.Ile1467Phe",
"transcript": "XM_047443987.1",
"protein_id": "XP_047299943.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1529,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443987.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443988.1",
"protein_id": "XP_047299944.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443988.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443989.1",
"protein_id": "XP_047299945.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443989.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443990.1",
"protein_id": "XP_047299946.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443990.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4439A>T",
"hgvs_p": "p.His1480Leu",
"transcript": "XM_047443991.1",
"protein_id": "XP_047299947.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4439,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443991.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443992.1",
"protein_id": "XP_047299948.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443992.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443993.1",
"protein_id": "XP_047299949.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443993.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443994.1",
"protein_id": "XP_047299950.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443994.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443995.1",
"protein_id": "XP_047299951.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443995.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe",
"transcript": "XM_047443996.1",
"protein_id": "XP_047299952.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4402,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443996.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4399A>T",
"hgvs_p": "p.Ile1467Phe",
"transcript": "XM_047443997.1",
"protein_id": "XP_047299953.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1471,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443997.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.4222A>T",
"hgvs_p": "p.Ile1408Phe",
"transcript": "XM_047443998.1",
"protein_id": "XP_047299954.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
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"biotype": "protein_coding",
"feature": "XM_047443998.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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"intron_rank": null,
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"biotype": "pseudogene",
"feature": "ENST00000846151.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "CCDC141",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 6,
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"hgvs_c": "n.306+5710T>A",
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"biotype": "pseudogene",
"feature": "ENST00000652826.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000287149",
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"transcript": "ENST00000667123.1",
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"feature": "ENST00000667123.1"
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{
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"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "ENSG00000287149",
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"feature": "ENST00000667180.1"
},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "ENSG00000287149",
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"biotype": "pseudogene",
"feature": "ENST00000846150.1"
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],
"gene_symbol": "CCDC141",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.914249062538147,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.686,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3507,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.327,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173648.4",
"gene_symbol": "CCDC141",
"hgnc_id": 26821,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4402A>T",
"hgvs_p": "p.Ile1468Phe"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000846151.1",
"gene_symbol": "ENSG00000287149",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.204T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}