← 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: 22-38751330-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38751330&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38751330,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000689035.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_015374.3",
"protein_id": "NP_056189.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": "ENST00000689035.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000689035.1",
"protein_id": "ENSP00000508608.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": "NM_015374.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000405018.5",
"protein_id": "ENSP00000385616.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 738,
"cds_start": 166,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000405510.5",
"protein_id": "ENSP00000385740.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394427.1",
"protein_id": "NP_001381356.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 748,
"cds_start": 166,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001199579.2",
"protein_id": "NP_001186508.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 738,
"cds_start": 166,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394428.1",
"protein_id": "NP_001381357.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 738,
"cds_start": 166,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394429.1",
"protein_id": "NP_001381358.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 732,
"cds_start": 166,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394430.1",
"protein_id": "NP_001381359.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 732,
"cds_start": 166,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394431.1",
"protein_id": "NP_001381360.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 725,
"cds_start": 166,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000455125.2",
"protein_id": "ENSP00000390154.2",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 725,
"cds_start": 166,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001199580.2",
"protein_id": "NP_001186509.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394432.1",
"protein_id": "NP_001381361.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394433.1",
"protein_id": "NP_001381362.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394434.1",
"protein_id": "NP_001381363.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394435.1",
"protein_id": "NP_001381364.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000406622.5",
"protein_id": "ENSP00000383992.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 717,
"cds_start": 166,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394436.1",
"protein_id": "NP_001381365.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 716,
"cds_start": 166,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394437.1",
"protein_id": "NP_001381366.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 716,
"cds_start": 166,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394439.1",
"protein_id": "NP_001381368.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 671,
"cds_start": 166,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394440.1",
"protein_id": "NP_001381369.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 671,
"cds_start": 166,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394441.1",
"protein_id": "NP_001381370.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 671,
"cds_start": 166,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000456894.6",
"protein_id": "ENSP00000415588.3",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 671,
"cds_start": 166,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000690927.1",
"protein_id": "ENSP00000508791.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 639,
"cds_start": 166,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394442.1",
"protein_id": "NP_001381371.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 584,
"cds_start": 166,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394444.1",
"protein_id": "NP_001381373.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 525,
"cds_start": 166,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "NM_001394445.1",
"protein_id": "NP_001381374.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 525,
"cds_start": 166,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000438058.5",
"protein_id": "ENSP00000406941.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 223,
"cds_start": 166,
"cds_end": null,
"cds_length": 672,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000452294.5",
"protein_id": "ENSP00000414950.1",
"transcript_support_level": 4,
"aa_start": 56,
"aa_end": null,
"aa_length": 143,
"cds_start": 166,
"cds_end": null,
"cds_length": 434,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000417332.5",
"protein_id": "ENSP00000412928.1",
"transcript_support_level": 4,
"aa_start": 56,
"aa_end": null,
"aa_length": 123,
"cds_start": 166,
"cds_end": null,
"cds_length": 374,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000433561.5",
"protein_id": "ENSP00000411615.1",
"transcript_support_level": 4,
"aa_start": 56,
"aa_end": null,
"aa_length": 109,
"cds_start": 166,
"cds_end": null,
"cds_length": 330,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "ENST00000439339.1",
"protein_id": "ENSP00000393271.1",
"transcript_support_level": 4,
"aa_start": 56,
"aa_end": null,
"aa_length": 99,
"cds_start": 166,
"cds_end": null,
"cds_length": 302,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"transcript": "XM_047441311.1",
"protein_id": "XP_047297267.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 760,
"cds_start": 271,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "XM_047441310.1",
"protein_id": "XP_047297266.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 725,
"cds_start": 166,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "XM_047441312.1",
"protein_id": "XP_047297268.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 725,
"cds_start": 166,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "XM_047441313.1",
"protein_id": "XP_047297269.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 725,
"cds_start": 166,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro",
"transcript": "XM_017028748.2",
"protein_id": "XP_016884237.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 683,
"cds_start": 166,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000480307.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "n.314G>C",
"hgvs_p": null,
"transcript": "ENST00000494273.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.123-47G>C",
"hgvs_p": null,
"transcript": "NM_001394438.1",
"protein_id": "NP_001381367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.122+1177G>C",
"hgvs_p": null,
"transcript": "NM_001394443.1",
"protein_id": "NP_001381372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"dbsnp": "rs137966643",
"frequency_reference_population": 0.00075590756,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1220,
"gnomad_exomes_af": 0.000794931,
"gnomad_genomes_af": 0.000381098,
"gnomad_exomes_ac": 1162,
"gnomad_genomes_ac": 58,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08472350239753723,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.655,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.0904,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.585,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000689035.1",
"gene_symbol": "SUN2",
"hgnc_id": 14210,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Ala56Pro"
}
],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}