← 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: 21-46125985-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46125985&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46125985,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001849.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "NM_001849.4",
"protein_id": "NP_001840.3",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300527.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001849.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000300527.9",
"protein_id": "ENSP00000300527.4",
"transcript_support_level": 1,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001849.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300527.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "NM_058174.3",
"protein_id": "NP_478054.2",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 918,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000397763.6",
"biotype": "protein_coding",
"feature": "NM_058174.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000397763.6",
"protein_id": "ENSP00000380870.1",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 918,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_058174.3",
"biotype": "protein_coding",
"feature": "ENST00000397763.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2365C>A",
"hgvs_p": "p.Arg789Ser",
"transcript": "ENST00000857098.1",
"protein_id": "ENSP00000527157.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2365,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857098.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2332C>A",
"hgvs_p": "p.Arg778Ser",
"transcript": "ENST00000857103.1",
"protein_id": "ENSP00000527162.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857103.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2287C>A",
"hgvs_p": "p.Arg763Ser",
"transcript": "ENST00000857092.1",
"protein_id": "ENSP00000527151.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2287,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857092.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2239C>A",
"hgvs_p": "p.Arg747Ser",
"transcript": "ENST00000857106.1",
"protein_id": "ENSP00000527165.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2239,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857106.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2212C>A",
"hgvs_p": "p.Arg738Ser",
"transcript": "ENST00000968880.1",
"protein_id": "ENSP00000638939.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2212,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968880.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2200C>A",
"hgvs_p": "p.Arg734Ser",
"transcript": "ENST00000857101.1",
"protein_id": "ENSP00000527160.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2200,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857101.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857090.1",
"protein_id": "ENSP00000527149.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857090.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857091.1",
"protein_id": "ENSP00000527150.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857091.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857094.1",
"protein_id": "ENSP00000527153.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857094.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857096.1",
"protein_id": "ENSP00000527155.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857096.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857100.1",
"protein_id": "ENSP00000527159.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857100.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857108.1",
"protein_id": "ENSP00000527167.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857108.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857109.1",
"protein_id": "ENSP00000527168.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857109.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000968878.1",
"protein_id": "ENSP00000638937.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968878.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000968883.1",
"protein_id": "ENSP00000638942.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968883.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000968884.1",
"protein_id": "ENSP00000638943.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968884.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2164C>A",
"hgvs_p": "p.Arg722Ser",
"transcript": "ENST00000968879.1",
"protein_id": "ENSP00000638938.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968879.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2161C>A",
"hgvs_p": "p.Arg721Ser",
"transcript": "ENST00000934972.1",
"protein_id": "ENSP00000605031.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2161,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934972.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857105.1",
"protein_id": "ENSP00000527164.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2170,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857105.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2119C>A",
"hgvs_p": "p.Arg707Ser",
"transcript": "ENST00000857102.1",
"protein_id": "ENSP00000527161.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2119,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857102.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2116C>A",
"hgvs_p": "p.Arg706Ser",
"transcript": "ENST00000968882.1",
"protein_id": "ENSP00000638941.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2116,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968882.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Arg703Ser",
"transcript": "ENST00000857093.1",
"protein_id": "ENSP00000527152.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 998,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857093.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Arg703Ser",
"transcript": "ENST00000857095.1",
"protein_id": "ENSP00000527154.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 998,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857095.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Arg703Ser",
"transcript": "ENST00000857099.1",
"protein_id": "ENSP00000527158.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 998,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857099.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Arg703Ser",
"transcript": "ENST00000857107.1",
"protein_id": "ENSP00000527166.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 998,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857107.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.Arg703Ser",
"transcript": "ENST00000934971.1",
"protein_id": "ENSP00000605030.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 998,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934971.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000857097.1",
"protein_id": "ENSP00000527156.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 899,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857097.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.1765C>A",
"hgvs_p": "p.Arg589Ser",
"transcript": "ENST00000968881.1",
"protein_id": "ENSP00000638940.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 884,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968881.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "NM_058175.3",
"protein_id": "NP_478055.2",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 828,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058175.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser",
"transcript": "ENST00000409416.6",
"protein_id": "ENSP00000387115.1",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 828,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409416.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Arg244Ser",
"transcript": "ENST00000857104.1",
"protein_id": "ENSP00000527163.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 539,
"cds_start": 730,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.*91C>A",
"hgvs_p": null,
"transcript": "ENST00000413758.1",
"protein_id": "ENSP00000395751.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413758.1"
}
],
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"dbsnp": "rs150098077",
"frequency_reference_population": 0.0000041073104,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410731,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4398491382598877,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.445,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001849.4",
"gene_symbol": "COL6A2",
"hgnc_id": 2212,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2170C>A",
"hgvs_p": "p.Arg724Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}