← 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: 17-43853974-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43853974&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CD300LG",
"hgnc_id": 30455,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_145273.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107985077",
"hgnc_id": null,
"hgvs_c": "n.180+437G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_001752896.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0678,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03933882713317871,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 332,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 690,
"cds_end": null,
"cds_length": 999,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145273.4",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317310.5",
"protein_coding": true,
"protein_id": "NP_660316.2",
"strand": true,
"transcript": "NM_145273.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 332,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 690,
"cds_end": null,
"cds_length": 999,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000317310.5",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145273.4",
"protein_coding": true,
"protein_id": "ENSP00000321005.3",
"strand": true,
"transcript": "ENST00000317310.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 307,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 718,
"cds_end": null,
"cds_length": 924,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000539718.5",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442368.1",
"strand": true,
"transcript": "ENST00000539718.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 233,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 988,
"cdna_start": 455,
"cds_end": null,
"cds_length": 702,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000293396.12",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000293396.7",
"strand": true,
"transcript": "ENST00000293396.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 455,
"cds_end": null,
"cds_length": 669,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586233.5",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468800.1",
"strand": true,
"transcript": "ENST00000586233.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 710,
"cds_end": null,
"cds_length": 1119,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000971194.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641253.1",
"strand": true,
"transcript": "ENST00000971194.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1017,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971192.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Pro183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641251.1",
"strand": true,
"transcript": "ENST00000971192.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 537,
"cds_end": null,
"cds_length": 966,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877598.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Pro166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547657.1",
"strand": true,
"transcript": "ENST00000877598.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 313,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 565,
"cds_end": null,
"cds_length": 942,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877595.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Pro166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547654.1",
"strand": true,
"transcript": "ENST00000877595.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 307,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 690,
"cds_end": null,
"cds_length": 924,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001168322.2",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161794.1",
"strand": true,
"transcript": "NM_001168322.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 298,
"aa_ref": "P",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 650,
"cds_end": null,
"cds_length": 897,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877593.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Pro183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547652.1",
"strand": true,
"transcript": "ENST00000877593.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 287,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 463,
"cds_end": null,
"cds_length": 864,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877596.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547655.1",
"strand": true,
"transcript": "ENST00000877596.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 583,
"cds_end": null,
"cds_length": 846,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877594.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Pro166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547653.1",
"strand": true,
"transcript": "ENST00000877594.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 273,
"aa_ref": "P",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 588,
"cds_end": null,
"cds_length": 822,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001168323.2",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Pro183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161795.1",
"strand": true,
"transcript": "NM_001168323.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 273,
"aa_ref": "P",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 616,
"cds_end": null,
"cds_length": 822,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000377203.8",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Pro183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366408.3",
"strand": true,
"transcript": "ENST00000377203.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 435,
"cds_end": null,
"cds_length": 744,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001411122.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398051.1",
"strand": true,
"transcript": "NM_001411122.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 435,
"cds_end": null,
"cds_length": 744,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000700726.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515157.1",
"strand": true,
"transcript": "ENST00000700726.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 233,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 435,
"cds_end": null,
"cds_length": 702,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001168324.2",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161796.1",
"strand": true,
"transcript": "NM_001168324.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "P",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 354,
"cds_end": null,
"cds_length": 663,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877597.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Pro105Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547656.1",
"strand": true,
"transcript": "ENST00000877597.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 186,
"aa_ref": "P",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 303,
"cds_end": null,
"cds_length": 561,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971193.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641252.1",
"strand": true,
"transcript": "ENST00000971193.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 175,
"aa_ref": "P",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 99,
"cds_end": null,
"cds_length": 528,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971195.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Pro20Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641254.1",
"strand": true,
"transcript": "ENST00000971195.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 135,
"aa_ref": "P",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 99,
"cds_end": null,
"cds_length": 408,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877599.1",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Pro20Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547658.1",
"strand": true,
"transcript": "ENST00000877599.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1119,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006721721.4",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721784.1",
"strand": true,
"transcript": "XM_006721721.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1017,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006721722.4",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Pro183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721785.1",
"strand": true,
"transcript": "XM_006721722.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 537,
"cds_end": null,
"cds_length": 966,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005257075.4",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Pro166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257132.1",
"strand": true,
"transcript": "XM_005257075.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 318,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": 690,
"cds_end": null,
"cds_length": 957,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011524384.4",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Pro217Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522686.1",
"strand": true,
"transcript": "XM_011524384.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 287,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 435,
"cds_end": null,
"cds_length": 864,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005257076.4",
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Pro132Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257133.1",
"strand": true,
"transcript": "XM_005257076.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001752896.2",
"gene_hgnc_id": null,
"gene_symbol": "LOC107985077",
"hgvs_c": "n.180+437G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001752896.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs565818799",
"effect": "missense_variant",
"frequency_reference_population": 6.840516e-7,
"gene_hgnc_id": 30455,
"gene_symbol": "CD300LG",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84052e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.557,
"pos": 43853974,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.026,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_145273.4"
}
]
}