← 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: 6-13053389-CG-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=13053389&ref=CG&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PHACTR1",
"hgnc_id": 20990,
"hgvs_c": "c.278_279delCGinsAA",
"hgvs_p": "p.Ala93Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001322314.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030948.6",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000332995.12",
"protein_coding": true,
"protein_id": "NP_112210.1",
"strand": true,
"transcript": "NM_030948.6",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000332995.12",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030948.6",
"protein_coding": true,
"protein_id": "ENSP00000329880.8",
"strand": true,
"transcript": "ENST00000332995.12",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 650,
"aa_ref": "A",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1953,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322314.4",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.278_279delCGinsAA",
"hgvs_p": "p.Ala93Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309243.1",
"strand": true,
"transcript": "NM_001322314.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 650,
"aa_ref": "A",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1953,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675203.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.278_279delCGinsAA",
"hgvs_p": "p.Ala93Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502172.2",
"strand": true,
"transcript": "ENST00000675203.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 321,
"cds_end": null,
"cds_length": 1950,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322310.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309239.1",
"strand": true,
"transcript": "NM_001322310.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1791,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374581.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361510.1",
"strand": true,
"transcript": "NM_001374581.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1791,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674595.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502157.1",
"strand": true,
"transcript": "ENST00000674595.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001242648.4",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229577.1",
"strand": true,
"transcript": "NM_001242648.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322308.3",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309237.1",
"strand": true,
"transcript": "NM_001322308.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322309.3",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309238.1",
"strand": true,
"transcript": "NM_001322309.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674637.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501634.1",
"strand": true,
"transcript": "ENST00000674637.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1743,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676159.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501921.1",
"strand": true,
"transcript": "ENST00000676159.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1644,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374582.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361511.1",
"strand": true,
"transcript": "NM_001374582.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 228,
"cds_end": null,
"cds_length": 1605,
"cds_start": 137,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000689548.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.137_138delCGinsAA",
"hgvs_p": "p.Ala46Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509837.1",
"strand": true,
"transcript": "ENST00000689548.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 181,
"aa_ref": "A",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 792,
"cdna_start": 381,
"cds_end": null,
"cds_length": 548,
"cds_start": 137,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406205.7",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.137_138delCGinsAA",
"hgvs_p": "p.Ala46Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384760.3",
"strand": true,
"transcript": "ENST00000406205.7",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1950,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005248934.4",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248991.1",
"strand": true,
"transcript": "XM_005248934.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1950,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418372.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274328.1",
"strand": true,
"transcript": "XM_047418372.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1950,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418373.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274329.1",
"strand": true,
"transcript": "XM_047418373.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1950,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418374.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274330.1",
"strand": true,
"transcript": "XM_047418374.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 597,
"aa_ref": "A",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1794,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010458.3",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.278_279delCGinsAA",
"hgvs_p": "p.Ala93Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865947.1",
"strand": true,
"transcript": "XM_017010458.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1791,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010459.3",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.275_276delCGinsAA",
"hgvs_p": "p.Ala92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865948.1",
"strand": true,
"transcript": "XM_017010459.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 581,
"aa_ref": "A",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1746,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010464.3",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.278_279delCGinsAA",
"hgvs_p": "p.Ala93Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865953.1",
"strand": true,
"transcript": "XM_017010464.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001322313.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309242.1",
"strand": true,
"transcript": "NM_001322313.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000687600.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509410.1",
"strand": true,
"transcript": "ENST00000687600.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 504,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": null,
"cds_end": null,
"cds_length": 1515,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001374583.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361512.1",
"strand": true,
"transcript": "NM_001374583.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001322311.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309240.1",
"strand": true,
"transcript": "NM_001322311.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001322312.3",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309241.1",
"strand": true,
"transcript": "NM_001322312.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482982.2",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501726.1",
"strand": true,
"transcript": "ENST00000482982.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676234.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502037.1",
"strand": true,
"transcript": "ENST00000676234.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5115,
"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000692995.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509690.1",
"strand": true,
"transcript": "ENST00000692995.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047418375.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-2_-1delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274331.1",
"strand": true,
"transcript": "XM_047418375.1",
"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": 4784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000379350.5",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "n.404_405delCGinsAA",
"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": "ENST00000379350.5",
"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": 3235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000692662.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "n.433_434delCGinsAA",
"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": "ENST00000692662.1",
"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": 2427,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000693693.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "n.1141_1142delCGinsAA",
"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": "ENST00000693693.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 230,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": null,
"cds_end": null,
"cds_length": 693,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434977.1",
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"hgvs_c": "c.-68_-67delCGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412573.1",
"strand": true,
"transcript": "ENST00000434977.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20990,
"gene_symbol": "PHACTR1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 5.014,
"pos": 13053389,
"ref": "CG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001322314.4"
}
]
}