← 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: 21-46132175-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46132175&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL6A2",
"hgnc_id": 2212,
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001849.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 2783,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7673,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "21",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Bethlem myopathy 1A,COL6A2-related disorder,Collagen 6-related myopathy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008235663175582886,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 2772,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001849.4",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300527.9",
"protein_coding": true,
"protein_id": "NP_001840.3",
"strand": true,
"transcript": "NM_001849.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 2772,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000300527.9",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001849.4",
"protein_coding": true,
"protein_id": "ENSP00000300527.4",
"strand": true,
"transcript": "ENST00000300527.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "S",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 2956,
"cds_end": null,
"cds_length": 3255,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857098.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2878A>C",
"hgvs_p": "p.Ser960Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527157.1",
"strand": true,
"transcript": "ENST00000857098.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "S",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 3222,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857103.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2845A>C",
"hgvs_p": "p.Ser949Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527162.1",
"strand": true,
"transcript": "ENST00000857103.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "S",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857092.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2800A>C",
"hgvs_p": "p.Ser934Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527151.1",
"strand": true,
"transcript": "ENST00000857092.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "S",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2752,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000857106.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2752A>C",
"hgvs_p": "p.Ser918Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527165.1",
"strand": true,
"transcript": "ENST00000857106.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "S",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2725,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968880.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2725A>C",
"hgvs_p": "p.Ser909Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638939.1",
"strand": true,
"transcript": "ENST00000968880.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "S",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 2787,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857101.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2713A>C",
"hgvs_p": "p.Ser905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527160.1",
"strand": true,
"transcript": "ENST00000857101.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857090.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527149.1",
"strand": true,
"transcript": "ENST00000857090.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857091.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527150.1",
"strand": true,
"transcript": "ENST00000857091.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857094.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527153.1",
"strand": true,
"transcript": "ENST00000857094.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 2834,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000857096.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527155.1",
"strand": true,
"transcript": "ENST00000857096.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 2951,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000857100.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527159.1",
"strand": true,
"transcript": "ENST00000857100.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2947,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857108.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527167.1",
"strand": true,
"transcript": "ENST00000857108.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 3217,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000857109.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527168.1",
"strand": true,
"transcript": "ENST00000857109.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968878.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638937.1",
"strand": true,
"transcript": "ENST00000968878.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 3093,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968883.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638942.1",
"strand": true,
"transcript": "ENST00000968883.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 3131,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000968884.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2683A>C",
"hgvs_p": "p.Ser895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638943.1",
"strand": true,
"transcript": "ENST00000968884.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "S",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2765,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000968879.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2677A>C",
"hgvs_p": "p.Ser893Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638938.1",
"strand": true,
"transcript": "ENST00000968879.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "S",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 3051,
"cds_start": 2674,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000934972.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2674A>C",
"hgvs_p": "p.Ser892Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605031.1",
"strand": true,
"transcript": "ENST00000934972.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857105.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2644A>C",
"hgvs_p": "p.Ser882Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527164.1",
"strand": true,
"transcript": "ENST00000857105.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "S",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2632,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857102.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2632A>C",
"hgvs_p": "p.Ser878Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527161.1",
"strand": true,
"transcript": "ENST00000857102.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "S",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2629,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000968882.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2629A>C",
"hgvs_p": "p.Ser877Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638941.1",
"strand": true,
"transcript": "ENST00000968882.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 998,
"aa_ref": "S",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2620,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857093.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2620A>C",
"hgvs_p": "p.Ser874Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527152.1",
"strand": true,
"transcript": "ENST00000857093.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 998,
"aa_ref": "S",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 2705,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2620,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857095.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2620A>C",
"hgvs_p": "p.Ser874Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527154.1",
"strand": true,
"transcript": "ENST00000857095.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 998,
"aa_ref": "S",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3371,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2620,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857099.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2620A>C",
"hgvs_p": "p.Ser874Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527158.1",
"strand": true,
"transcript": "ENST00000857099.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 998,
"aa_ref": "S",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3345,
"cdna_start": 2672,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2620,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000857107.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2620A>C",
"hgvs_p": "p.Ser874Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527166.1",
"strand": true,
"transcript": "ENST00000857107.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 998,
"aa_ref": "S",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2620,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000934971.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2620A>C",
"hgvs_p": "p.Ser874Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605030.1",
"strand": true,
"transcript": "ENST00000934971.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 884,
"aa_ref": "S",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2278,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000968881.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2278A>C",
"hgvs_p": "p.Ser760Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638940.1",
"strand": true,
"transcript": "ENST00000968881.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 539,
"aa_ref": "S",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000857104.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.1243A>C",
"hgvs_p": "p.Ser415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527163.1",
"strand": true,
"transcript": "ENST00000857104.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 899,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": null,
"cds_end": null,
"cds_length": 2700,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857097.1",
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"hgvs_c": "c.2462-139A>C",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527156.1",
"strand": true,
"transcript": "ENST00000857097.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs141233891",
"effect": "missense_variant",
"frequency_reference_population": 0.0017695638,
"gene_hgnc_id": 2212,
"gene_symbol": "COL6A2",
"gnomad_exomes_ac": 2595,
"gnomad_exomes_af": 0.00182692,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_ac": 188,
"gnomad_genomes_af": 0.00123455,
"gnomad_genomes_homalt": 1,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Bethlem myopathy 1A|Collagen 6-related myopathy|COL6A2-related disorder|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.087,
"pos": 46132175,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.289,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001849.4"
}
]
}