← 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: 12-32216297-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32216297&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BICD1",
"hgnc_id": 1049,
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001413156.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9633,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7961657643318176,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 975,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9419,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2928,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001714.4",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652176.1",
"protein_coding": true,
"protein_id": "NP_001705.2",
"strand": true,
"transcript": "NM_001714.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 975,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9419,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2928,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000652176.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001714.4",
"protein_coding": true,
"protein_id": "ENSP00000498700.1",
"strand": true,
"transcript": "ENST00000652176.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 835,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9115,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2508,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000548411.6",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446793.1",
"strand": true,
"transcript": "ENST00000548411.6",
"transcript_support_level": 1
},
{
"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": 3194,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395758.3",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "n.264G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000379107.3",
"strand": true,
"transcript": "ENST00000395758.3",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 993,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2982,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413156.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400085.1",
"strand": true,
"transcript": "NM_001413156.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 991,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2976,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413157.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400086.1",
"strand": true,
"transcript": "NM_001413157.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 988,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9343,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2967,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413158.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400087.1",
"strand": true,
"transcript": "NM_001413158.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 982,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2949,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413159.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400088.1",
"strand": true,
"transcript": "NM_001413159.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 978,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9428,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2937,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354186.2",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341115.1",
"strand": true,
"transcript": "NM_001354186.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 945,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2838,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413160.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400089.1",
"strand": true,
"transcript": "NM_001413160.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 937,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2814,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413161.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400090.1",
"strand": true,
"transcript": "NM_001413161.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 929,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9281,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2790,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413163.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400092.1",
"strand": true,
"transcript": "NM_001413163.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 929,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3997,
"cdna_start": 721,
"cds_end": null,
"cds_length": 2790,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870314.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540373.1",
"strand": true,
"transcript": "ENST00000870314.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2682,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413164.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400093.1",
"strand": true,
"transcript": "NM_001413164.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 891,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2676,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413165.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400094.1",
"strand": true,
"transcript": "NM_001413165.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 885,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9149,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2658,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413166.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400095.1",
"strand": true,
"transcript": "NM_001413166.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 883,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9225,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2652,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413167.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400096.1",
"strand": true,
"transcript": "NM_001413167.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 877,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9125,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2634,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354187.2",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341116.1",
"strand": true,
"transcript": "NM_001354187.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 877,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 779,
"cds_end": null,
"cds_length": 2634,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870313.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540372.1",
"strand": true,
"transcript": "ENST00000870313.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 846,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9148,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2541,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413168.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400097.1",
"strand": true,
"transcript": "NM_001413168.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 837,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2514,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413169.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400098.1",
"strand": true,
"transcript": "NM_001413169.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 835,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9115,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2508,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001003398.3",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001003398.1",
"strand": true,
"transcript": "NM_001003398.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 835,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2508,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413155.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400084.1",
"strand": true,
"transcript": "NM_001413155.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 827,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2484,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363603.2",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350532.1",
"strand": true,
"transcript": "NM_001363603.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 821,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9039,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2466,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354188.2",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341117.1",
"strand": true,
"transcript": "NM_001354188.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 728,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2187,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413170.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400099.1",
"strand": true,
"transcript": "NM_001413170.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 717,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2154,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354189.2",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341118.1",
"strand": true,
"transcript": "NM_001354189.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8689,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2082,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413171.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400100.1",
"strand": true,
"transcript": "NM_001413171.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 470,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8020,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1413,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413172.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400101.1",
"strand": true,
"transcript": "NM_001413172.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 339,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1020,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413173.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400102.1",
"strand": true,
"transcript": "NM_001413173.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 186,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 749,
"cds_end": null,
"cds_length": 561,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413174.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400103.1",
"strand": true,
"transcript": "NM_001413174.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 176,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6139,
"cdna_start": 749,
"cds_end": null,
"cds_length": 531,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413176.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400105.1",
"strand": true,
"transcript": "NM_001413176.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 159,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 749,
"cds_end": null,
"cds_length": 480,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413177.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400106.1",
"strand": true,
"transcript": "NM_001413177.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 150,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 749,
"cds_end": null,
"cds_length": 453,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413178.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400107.1",
"strand": true,
"transcript": "NM_001413178.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 146,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 749,
"cds_end": null,
"cds_length": 441,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001413179.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400108.1",
"strand": true,
"transcript": "NM_001413179.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 966,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2901,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011520813.3",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519115.1",
"strand": true,
"transcript": "XM_011520813.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 951,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9429,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2856,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011520814.4",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519116.1",
"strand": true,
"transcript": "XM_011520814.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 835,
"aa_ref": "E",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2508,
"cds_start": 264,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047429325.1",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "c.264G>T",
"hgvs_p": "p.Glu88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285281.1",
"strand": true,
"transcript": "XM_047429325.1",
"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": 9309,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_148725.2",
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"hgvs_c": "n.749G>T",
"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": "NR_148725.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200761672",
"effect": "missense_variant",
"frequency_reference_population": 6.840825e-7,
"gene_hgnc_id": 1049,
"gene_symbol": "BICD1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84082e-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": "Uncertain_significance",
"phylop100way_score": 5.323,
"pos": 32216297,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.308,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001413156.1"
}
]
}