← 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: 12-122340866-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122340866&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLIP1",
"hgnc_id": 10461,
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001389291.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1097,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1531851887702942,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001247997.2",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000620786.5",
"protein_coding": true,
"protein_id": "NP_001234926.1",
"strand": false,
"transcript": "NM_001247997.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000620786.5",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001247997.2",
"protein_coding": true,
"protein_id": "ENSP00000479322.1",
"strand": false,
"transcript": "ENST00000620786.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000358808.6",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351665.2",
"strand": false,
"transcript": "ENST00000358808.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000537178.5",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445531.1",
"strand": false,
"transcript": "ENST00000537178.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2148,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8108,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 6447,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389291.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376220.1",
"strand": false,
"transcript": "NM_001389291.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6197,
"cdna_start": 2777,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971572.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641631.1",
"strand": false,
"transcript": "ENST00000971572.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6670,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971573.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641632.1",
"strand": false,
"transcript": "ENST00000971573.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4971,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 4317,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971577.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641636.1",
"strand": false,
"transcript": "ENST00000971577.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5945,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_002956.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002947.1",
"strand": false,
"transcript": "NM_002956.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000302528.11",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303585.7",
"strand": false,
"transcript": "ENST00000302528.11",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859891.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529950.1",
"strand": false,
"transcript": "ENST00000859891.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4938,
"cdna_start": 2796,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971576.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641635.1",
"strand": false,
"transcript": "ENST00000971576.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5912,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 4212,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859888.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2233C>G",
"hgvs_p": "p.Arg745Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529947.1",
"strand": false,
"transcript": "ENST00000859888.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 4212,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971569.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2233C>G",
"hgvs_p": "p.Arg745Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641628.1",
"strand": false,
"transcript": "ENST00000971569.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5840,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_198240.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_937883.1",
"strand": false,
"transcript": "NM_198240.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5986,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859889.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529948.1",
"strand": false,
"transcript": "ENST00000859889.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5929,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859892.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529951.1",
"strand": false,
"transcript": "ENST00000859892.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971570.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641629.1",
"strand": false,
"transcript": "ENST00000971570.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 3103,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971574.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641633.1",
"strand": false,
"transcript": "ENST00000971574.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971578.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641637.1",
"strand": false,
"transcript": "ENST00000971578.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 4119,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971571.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2140C>G",
"hgvs_p": "p.Arg714Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641630.1",
"strand": false,
"transcript": "ENST00000971571.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 791,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 391,
"cds_end": null,
"cds_length": 2376,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648993.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Arg131Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497665.1",
"strand": false,
"transcript": "ENST00000648993.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5984,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 4323,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005253593.4",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253650.1",
"strand": false,
"transcript": "XM_005253593.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "R",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 2916,
"cds_end": null,
"cds_length": 4323,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047429307.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2338C>G",
"hgvs_p": "p.Arg780Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285263.1",
"strand": false,
"transcript": "XM_047429307.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5951,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006719552.5",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719615.1",
"strand": false,
"transcript": "XM_006719552.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6625,
"cdna_start": 3234,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429309.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285265.1",
"strand": false,
"transcript": "XM_047429309.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6619,
"cdna_start": 3234,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429310.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285266.1",
"strand": false,
"transcript": "XM_047429310.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 4218,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429311.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2233C>G",
"hgvs_p": "p.Arg745Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285267.1",
"strand": false,
"transcript": "XM_047429311.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5879,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 4218,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429312.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2233C>G",
"hgvs_p": "p.Arg745Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285268.1",
"strand": false,
"transcript": "XM_047429312.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5873,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 4212,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429313.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2233C>G",
"hgvs_p": "p.Arg745Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285269.1",
"strand": false,
"transcript": "XM_047429313.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5846,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 4185,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017019788.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875277.1",
"strand": false,
"transcript": "XM_017019788.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 3129,
"cds_end": null,
"cds_length": 4185,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017019789.2",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875278.1",
"strand": false,
"transcript": "XM_017019789.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 4185,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047429314.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285270.1",
"strand": false,
"transcript": "XM_047429314.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6169,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 4185,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047429315.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285271.1",
"strand": false,
"transcript": "XM_047429315.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6514,
"cdna_start": 3129,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047429316.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285272.1",
"strand": false,
"transcript": "XM_047429316.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6163,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 4179,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047429317.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285273.1",
"strand": false,
"transcript": "XM_047429317.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1390,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5834,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 4173,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017019791.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Arg769Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875280.1",
"strand": false,
"transcript": "XM_017019791.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5786,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 4125,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429318.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2140C>G",
"hgvs_p": "p.Arg714Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285274.1",
"strand": false,
"transcript": "XM_047429318.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 4068,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017019792.3",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875281.1",
"strand": false,
"transcript": "XM_017019792.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5723,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 4062,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047429319.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285275.1",
"strand": false,
"transcript": "XM_047429319.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "R",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 2257,
"cds_end": null,
"cds_length": 3987,
"cds_start": 2002,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047429320.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285276.1",
"strand": false,
"transcript": "XM_047429320.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "R",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": 2257,
"cds_end": null,
"cds_length": 3864,
"cds_start": 2002,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047429321.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285277.1",
"strand": false,
"transcript": "XM_047429321.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": null,
"cds_end": null,
"cds_length": 3951,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361654.8",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2085+115C>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355314.4",
"strand": false,
"transcript": "ENST00000361654.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": null,
"cds_end": null,
"cds_length": 3834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859890.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.2085+115C>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529949.1",
"strand": false,
"transcript": "ENST00000859890.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1063,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": null,
"cds_end": null,
"cds_length": 3192,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545889.6",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.1443+115C>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438743.2",
"strand": false,
"transcript": "ENST00000545889.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": null,
"cds_end": null,
"cds_length": 2408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540304.6",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.1992+115C>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437786.2",
"strand": false,
"transcript": "ENST00000540304.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 743,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3542,
"cdna_start": null,
"cds_end": null,
"cds_length": 2232,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971575.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "c.783-12440C>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641634.1",
"strand": false,
"transcript": "ENST00000971575.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000514271.2",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "n.3179C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000514271.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541410.1",
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"hgvs_c": "n.*222C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000541410.1",
"transcript_support_level": 1
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3741447",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013681332,
"gene_hgnc_id": 10461,
"gene_symbol": "CLIP1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136813,
"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": "Uncertain_significance",
"phylop100way_score": 4.153,
"pos": 122340866,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.081,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001389291.1"
}
]
}