← Back to variant description
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: 19-11350148-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11350148&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11350148,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001080503.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu",
"transcript": "NM_001080503.3",
"protein_id": "NP_001073972.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 297,
"cds_start": 175,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000458408.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080503.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu",
"transcript": "ENST00000458408.6",
"protein_id": "ENSP00000402239.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 297,
"cds_start": 175,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080503.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458408.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu",
"transcript": "ENST00000853370.1",
"protein_id": "ENSP00000523429.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 330,
"cds_start": 175,
"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": "ENST00000853370.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu",
"transcript": "ENST00000588790.5",
"protein_id": "ENSP00000468232.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 297,
"cds_start": 175,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588790.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Met58Leu",
"transcript": "ENST00000853371.1",
"protein_id": "ENSP00000523430.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 296,
"cds_start": 172,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853371.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "ENST00000853372.1",
"protein_id": "ENSP00000523431.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 295,
"cds_start": 169,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853372.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu",
"transcript": "ENST00000853369.1",
"protein_id": "ENSP00000523428.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 292,
"cds_start": 175,
"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": "ENST00000853369.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Met58Leu",
"transcript": "ENST00000853373.1",
"protein_id": "ENSP00000523432.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 291,
"cds_start": 172,
"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": "ENST00000853373.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.145A>T",
"hgvs_p": "p.Met49Leu",
"transcript": "ENST00000591260.5",
"protein_id": "ENSP00000466796.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 192,
"cds_start": 145,
"cds_end": null,
"cds_length": 580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591260.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Met36Leu",
"transcript": "ENST00000586451.5",
"protein_id": "ENSP00000465560.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 139,
"cds_start": 106,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586451.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Met36Leu",
"transcript": "ENST00000588592.5",
"protein_id": "ENSP00000465790.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 128,
"cds_start": 106,
"cds_end": null,
"cds_length": 388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588592.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Met36Leu",
"transcript": "ENST00000587531.5",
"protein_id": "ENSP00000466882.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 108,
"cds_start": 106,
"cds_end": null,
"cds_length": 329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587531.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.283A>T",
"hgvs_p": "p.Met95Leu",
"transcript": "XM_017026255.2",
"protein_id": "XP_016881744.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 350,
"cds_start": 283,
"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": "XM_017026255.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.277A>T",
"hgvs_p": "p.Met93Leu",
"transcript": "XM_017026256.3",
"protein_id": "XP_016881745.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 348,
"cds_start": 277,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026256.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.283A>T",
"hgvs_p": "p.Met95Leu",
"transcript": "XM_006722643.2",
"protein_id": "XP_006722706.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 333,
"cds_start": 283,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722643.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.277A>T",
"hgvs_p": "p.Met93Leu",
"transcript": "XM_047438146.1",
"protein_id": "XP_047294102.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 331,
"cds_start": 277,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438146.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Met68Leu",
"transcript": "XM_047438147.1",
"protein_id": "XP_047294103.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 323,
"cds_start": 202,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438147.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Met68Leu",
"transcript": "XM_047438148.1",
"protein_id": "XP_047294104.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 323,
"cds_start": 202,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438148.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Met68Leu",
"transcript": "XM_047438149.1",
"protein_id": "XP_047294105.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 323,
"cds_start": 202,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438149.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.202A>T",
"hgvs_p": "p.Met68Leu",
"transcript": "XM_047438150.1",
"protein_id": "XP_047294106.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 323,
"cds_start": 202,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438150.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu",
"transcript": "XM_017026258.3",
"protein_id": "XP_016881747.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 314,
"cds_start": 175,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026258.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Met58Leu",
"transcript": "XM_011527678.3",
"protein_id": "XP_011525980.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 313,
"cds_start": 172,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527678.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Met58Leu",
"transcript": "XM_017026259.3",
"protein_id": "XP_016881748.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 313,
"cds_start": 172,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026259.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Met58Leu",
"transcript": "XM_017026260.3",
"protein_id": "XP_016881749.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 296,
"cds_start": 172,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026260.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Met58Leu",
"transcript": "XM_024451347.2",
"protein_id": "XP_024307115.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 296,
"cds_start": 172,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451347.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.106A>T",
"hgvs_p": "p.Met36Leu",
"transcript": "XM_017026261.3",
"protein_id": "XP_016881750.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 291,
"cds_start": 106,
"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": "XM_017026261.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "c.19-3303A>T",
"hgvs_p": null,
"transcript": "ENST00000937509.1",
"protein_id": "ENSP00000607568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.251A>T",
"hgvs_p": null,
"transcript": "ENST00000588821.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000588821.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.224A>T",
"hgvs_p": null,
"transcript": "ENST00000589016.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000589016.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.258A>T",
"hgvs_p": null,
"transcript": "ENST00000590054.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000590054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.*176A>T",
"hgvs_p": null,
"transcript": "ENST00000590636.1",
"protein_id": "ENSP00000467391.1",
"transcript_support_level": 4,
"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": "ENST00000590636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.*71A>T",
"hgvs_p": null,
"transcript": "ENST00000590919.5",
"protein_id": "ENSP00000465744.1",
"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": "ENST00000590919.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.*71A>T",
"hgvs_p": null,
"transcript": "ENST00000592723.5",
"protein_id": "ENSP00000465290.1",
"transcript_support_level": 4,
"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": "ENST00000592723.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.*176A>T",
"hgvs_p": null,
"transcript": "ENST00000590636.1",
"protein_id": "ENSP00000467391.1",
"transcript_support_level": 4,
"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": "ENST00000590636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.*71A>T",
"hgvs_p": null,
"transcript": "ENST00000590919.5",
"protein_id": "ENSP00000465744.1",
"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": "ENST00000590919.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.*71A>T",
"hgvs_p": null,
"transcript": "ENST00000592723.5",
"protein_id": "ENSP00000465290.1",
"transcript_support_level": 4,
"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": "ENST00000592723.5"
}
],
"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"dbsnp": null,
"frequency_reference_population": 6.843025e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84303e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040088653564453125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.12,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.331,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001080503.3",
"gene_symbol": "CCDC159",
"hgnc_id": 26996,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Met59Leu"
}
],
"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
}