← 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: 1-167433042-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167433042&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167433042,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000362089.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Gly137Gly",
"transcript": "NM_198053.3",
"protein_id": "NP_932170.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 164,
"cds_start": 411,
"cds_end": null,
"cds_length": 495,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": "ENST00000362089.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Gly137Gly",
"transcript": "ENST00000362089.10",
"protein_id": "ENSP00000354782.5",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 164,
"cds_start": 411,
"cds_end": null,
"cds_length": 495,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": "NM_198053.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Gly136Gly",
"transcript": "ENST00000392122.4",
"protein_id": "ENSP00000375969.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 163,
"cds_start": 408,
"cds_end": null,
"cds_length": 492,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000470379.2",
"protein_id": "ENSP00000514807.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 68,
"cds_start": 123,
"cds_end": null,
"cds_length": 207,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Gly137Gly",
"transcript": "ENST00000700105.1",
"protein_id": "ENSP00000514800.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 229,
"cds_start": 411,
"cds_end": null,
"cds_length": 690,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Gly168Gly",
"transcript": "NM_001378515.1",
"protein_id": "NP_001365444.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 195,
"cds_start": 504,
"cds_end": null,
"cds_length": 588,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.501G>C",
"hgvs_p": "p.Gly167Gly",
"transcript": "NM_001378516.1",
"protein_id": "NP_001365445.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 194,
"cds_start": 501,
"cds_end": null,
"cds_length": 585,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.435G>C",
"hgvs_p": "p.Gly145Gly",
"transcript": "ENST00000700106.1",
"protein_id": "ENSP00000514802.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 172,
"cds_start": 435,
"cds_end": null,
"cds_length": 519,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Gly144Gly",
"transcript": "ENST00000700107.1",
"protein_id": "ENSP00000514803.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 171,
"cds_start": 432,
"cds_end": null,
"cds_length": 516,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Gly136Gly",
"transcript": "NM_000734.4",
"protein_id": "NP_000725.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 163,
"cds_start": 408,
"cds_end": null,
"cds_length": 492,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.327G>C",
"hgvs_p": "p.Gly109Gly",
"transcript": "ENST00000700134.1",
"protein_id": "ENSP00000514822.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 136,
"cds_start": 327,
"cds_end": null,
"cds_length": 411,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.252G>C",
"hgvs_p": "p.Gly84Gly",
"transcript": "ENST00000700157.1",
"protein_id": "ENSP00000514829.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 111,
"cds_start": 252,
"cds_end": null,
"cds_length": 336,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Gly42Gly",
"transcript": "ENST00000476733.6",
"protein_id": "ENSP00000514806.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 69,
"cds_start": 126,
"cds_end": null,
"cds_length": 210,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Gly42Gly",
"transcript": "ENST00000700109.1",
"protein_id": "ENSP00000514805.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 69,
"cds_start": 126,
"cds_end": null,
"cds_length": 210,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000700108.1",
"protein_id": "ENSP00000514804.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 68,
"cds_start": 123,
"cds_end": null,
"cds_length": 207,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000700156.1",
"protein_id": "ENSP00000514828.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 68,
"cds_start": 123,
"cds_end": null,
"cds_length": 207,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000700158.1",
"protein_id": "ENSP00000514830.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 68,
"cds_start": 123,
"cds_end": null,
"cds_length": 207,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000700160.1",
"protein_id": "ENSP00000514832.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 68,
"cds_start": 123,
"cds_end": null,
"cds_length": 207,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.435G>C",
"hgvs_p": "p.Gly145Gly",
"transcript": "XM_011510144.3",
"protein_id": "XP_011508446.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 172,
"cds_start": 435,
"cds_end": null,
"cds_length": 519,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Gly144Gly",
"transcript": "XM_011510145.2",
"protein_id": "XP_011508447.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 171,
"cds_start": 432,
"cds_end": null,
"cds_length": 516,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.1797G>C",
"hgvs_p": null,
"transcript": "ENST00000483825.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.108G>C",
"hgvs_p": null,
"transcript": "ENST00000485089.6",
"protein_id": "ENSP00000514801.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.350G>C",
"hgvs_p": null,
"transcript": "ENST00000700110.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.899G>C",
"hgvs_p": null,
"transcript": "ENST00000700135.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.1614G>C",
"hgvs_p": null,
"transcript": "ENST00000700136.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.636G>C",
"hgvs_p": null,
"transcript": "ENST00000700137.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.533G>C",
"hgvs_p": null,
"transcript": "ENST00000700139.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.108G>C",
"hgvs_p": null,
"transcript": "ENST00000700163.1",
"protein_id": "ENSP00000514835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.201G>C",
"hgvs_p": null,
"transcript": "ENST00000700164.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.404G>C",
"hgvs_p": null,
"transcript": "ENST00000700166.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000700167.1",
"protein_id": "ENSP00000514837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.204G>C",
"hgvs_p": null,
"transcript": "ENST00000700168.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000700167.1",
"protein_id": "ENSP00000514837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.393+978G>C",
"hgvs_p": null,
"transcript": "ENST00000700165.1",
"protein_id": "ENSP00000514836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.390+978G>C",
"hgvs_p": null,
"transcript": "ENST00000700159.1",
"protein_id": "ENSP00000514831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "c.108+978G>C",
"hgvs_p": null,
"transcript": "ENST00000700155.1",
"protein_id": "ENSP00000514827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"hgvs_c": "n.419+978G>C",
"hgvs_p": null,
"transcript": "ENST00000700138.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD247",
"gene_hgnc_id": 1677,
"dbsnp": "rs148298128",
"frequency_reference_population": 0.000029116662,
"hom_count_reference_population": 1,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000287303,
"gnomad_genomes_af": 0.0000328243,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.739,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000362089.10",
"gene_symbol": "CD247",
"hgnc_id": 1677,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Gly137Gly"
}
],
"clinvar_disease": "Immunodeficiency 25,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Immunodeficiency 25|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}