← 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: 14-67301432-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67301432&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PALS1",
"hgnc_id": 18669,
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_022474.4",
"verdict": "Benign"
},
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GPHN",
"hgnc_id": 15465,
"hgvs_c": "c.1312+242646A>C",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "XM_047430879.1",
"verdict": "Benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATP6V1D",
"hgnc_id": 13527,
"hgvs_c": "n.*296+2628T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "ENST00000554087.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 394,
"alphamissense_prediction": null,
"alphamissense_score": 0.5237,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "PALS1-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.047237008810043335,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": 955,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_022474.4",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261681.9",
"protein_coding": true,
"protein_id": "NP_071919.2",
"strand": true,
"transcript": "NM_022474.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": 955,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000261681.9",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022474.4",
"protein_coding": true,
"protein_id": "ENSP00000261681.4",
"strand": true,
"transcript": "ENST00000261681.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 641,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5006,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1926,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000555925.5",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451488.1",
"strand": true,
"transcript": "ENST00000555925.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676464.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503713.1",
"strand": true,
"transcript": "ENST00000676464.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5280,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000677382.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503322.1",
"strand": true,
"transcript": "ENST00000677382.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 936,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000677835.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503517.1",
"strand": true,
"transcript": "ENST00000677835.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": 902,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000678380.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503321.1",
"strand": true,
"transcript": "ENST00000678380.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909495.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579554.1",
"strand": true,
"transcript": "ENST00000909495.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5555,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909496.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579555.1",
"strand": true,
"transcript": "ENST00000909496.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 992,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954198.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624257.1",
"strand": true,
"transcript": "ENST00000954198.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954199.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624258.1",
"strand": true,
"transcript": "ENST00000954199.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "E",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1977,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909497.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.569A>C",
"hgvs_p": "p.Glu190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579556.1",
"strand": true,
"transcript": "ENST00000909497.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 641,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5236,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1926,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256550.2",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243479.1",
"strand": true,
"transcript": "NM_001256550.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 626,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5081,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1881,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954200.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624259.1",
"strand": true,
"transcript": "ENST00000954200.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011537086.3",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535388.1",
"strand": true,
"transcript": "XM_011537086.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5681,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537087.3",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535389.1",
"strand": true,
"transcript": "XM_011537087.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5788,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047431690.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287646.1",
"strand": true,
"transcript": "XM_047431690.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5517,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431691.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287647.1",
"strand": true,
"transcript": "XM_047431691.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6034,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047431692.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287648.1",
"strand": true,
"transcript": "XM_047431692.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2028,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047431693.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.Glu207Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287649.1",
"strand": true,
"transcript": "XM_047431693.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 641,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5449,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1926,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005268003.2",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268060.1",
"strand": true,
"transcript": "XM_005268003.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 641,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5343,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1926,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024449691.2",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305459.1",
"strand": true,
"transcript": "XM_024449691.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 641,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1926,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024449692.2",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305460.1",
"strand": true,
"transcript": "XM_024449692.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 641,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1926,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047431695.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287651.1",
"strand": true,
"transcript": "XM_047431695.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8368,
"cdna_start": 3855,
"cds_end": null,
"cds_length": 1512,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431696.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Glu35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287652.1",
"strand": true,
"transcript": "XM_047431696.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1458,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430879.1",
"gene_hgnc_id": 15465,
"gene_symbol": "GPHN",
"hgvs_c": "c.1312+242646A>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286835.1",
"strand": true,
"transcript": "XM_047430879.1",
"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": 3730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000677222.1",
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"hgvs_c": "n.977A>C",
"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": "ENST00000677222.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554087.5",
"gene_hgnc_id": 13527,
"gene_symbol": "ATP6V1D",
"hgvs_c": "n.*296+2628T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451167.1",
"strand": false,
"transcript": "ENST00000554087.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs549665024",
"effect": "missense_variant",
"frequency_reference_population": 0.00024455524,
"gene_hgnc_id": 18669,
"gene_symbol": "PALS1",
"gnomad_exomes_ac": 370,
"gnomad_exomes_af": 0.000253635,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_ac": 24,
"gnomad_genomes_af": 0.000157584,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 8,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "PALS1-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.653,
"pos": 67301432,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.573,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022474.4"
}
]
}