← 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: 17-4897899-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4897899&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4897899,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_153827.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*4280T>C",
"hgvs_p": null,
"transcript": "ENST00000574453.5",
"protein_id": "ENSP00000461500.1",
"transcript_support_level": 1,
"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": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "NM_153827.5",
"protein_id": "NP_722549.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1332,
"cds_start": -4,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": "ENST00000355280.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "ENST00000355280.11",
"protein_id": "ENSP00000347427.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1332,
"cds_start": -4,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": "NM_153827.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNE",
"gene_hgnc_id": 1966,
"hgvs_c": "c.*837A>G",
"hgvs_p": null,
"transcript": "NM_000080.4",
"protein_id": "NP_000071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": "ENST00000649488.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNE",
"gene_hgnc_id": 1966,
"hgvs_c": "c.*837A>G",
"hgvs_p": null,
"transcript": "ENST00000649488.2",
"protein_id": "ENSP00000497829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": "NM_000080.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "ENST00000347992.11",
"protein_id": "ENSP00000269296.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*4280T>C",
"hgvs_p": null,
"transcript": "ENST00000574453.5",
"protein_id": "ENSP00000461500.1",
"transcript_support_level": 1,
"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": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*3262T>C",
"hgvs_p": null,
"transcript": "ENST00000571207.5",
"protein_id": "ENSP00000459699.1",
"transcript_support_level": 5,
"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": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.2989T>C",
"hgvs_p": null,
"transcript": "ENST00000574871.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3150,
"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": "CHRNE",
"gene_hgnc_id": 1966,
"hgvs_c": "n.2045A>G",
"hgvs_p": null,
"transcript": "ENST00000652550.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "NM_001024937.4",
"protein_id": "NP_001020108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "NM_170663.5",
"protein_id": "NP_733763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "NM_015716.5",
"protein_id": "NP_056531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "NM_001321236.2",
"protein_id": "NP_001308165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": -4,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*3262T>C",
"hgvs_p": null,
"transcript": "ENST00000571207.5",
"protein_id": "ENSP00000459699.1",
"transcript_support_level": 5,
"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": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_006721531.2",
"protein_id": "XP_006721594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1361,
"cds_start": -4,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_006721532.2",
"protein_id": "XP_006721595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": -4,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_017024704.1",
"protein_id": "XP_016880193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1358,
"cds_start": -4,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436165.1",
"protein_id": "XP_047292121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1357,
"cds_start": -4,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_017024705.1",
"protein_id": "XP_016880194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1341,
"cds_start": -4,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436166.1",
"protein_id": "XP_047292122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1340,
"cds_start": -4,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436167.1",
"protein_id": "XP_047292123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436168.1",
"protein_id": "XP_047292124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": -4,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_011523906.1",
"protein_id": "XP_011522208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1329,
"cds_start": -4,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436169.1",
"protein_id": "XP_047292125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1328,
"cds_start": -4,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_006721536.2",
"protein_id": "XP_006721599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1324,
"cds_start": -4,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_017024706.1",
"protein_id": "XP_016880195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436170.1",
"protein_id": "XP_047292126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436171.1",
"protein_id": "XP_047292127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1309,
"cds_start": -4,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436172.1",
"protein_id": "XP_047292128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_017024707.3",
"protein_id": "XP_016880196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436173.1",
"protein_id": "XP_047292129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": -4,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436174.1",
"protein_id": "XP_047292130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436175.1",
"protein_id": "XP_047292131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_017024708.2",
"protein_id": "XP_016880197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1290,
"cds_start": -4,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436176.1",
"protein_id": "XP_047292132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1275,
"cds_start": -4,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436177.1",
"protein_id": "XP_047292133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": -4,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.*612T>C",
"hgvs_p": null,
"transcript": "XM_047436178.1",
"protein_id": "XP_047292134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1272,
"cds_start": -4,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNE",
"gene_hgnc_id": 1966,
"hgvs_c": "c.*837A>G",
"hgvs_p": null,
"transcript": "XM_017024115.2",
"protein_id": "XP_016879604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CHRNE",
"gene_hgnc_id": 1966,
"hgvs_c": "c.*955A>G",
"hgvs_p": null,
"transcript": "ENST00000649830.1",
"protein_id": "ENSP00000496907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*94T>C",
"hgvs_p": null,
"transcript": "ENST00000572330.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 5299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNE",
"gene_hgnc_id": 1966,
"hgvs_c": "n.*158A>G",
"hgvs_p": null,
"transcript": "ENST00000572438.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"dbsnp": "rs8834",
"frequency_reference_population": 0.35504135,
"hom_count_reference_population": 9519,
"allele_count_reference_population": 51770,
"gnomad_exomes_af": 0.262295,
"gnomad_genomes_af": 0.355353,
"gnomad_exomes_ac": 128,
"gnomad_genomes_ac": 51642,
"gnomad_exomes_homalt": 25,
"gnomad_genomes_homalt": 9494,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.223,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_153827.5",
"gene_symbol": "MINK1",
"hgnc_id": 17565,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*612T>C",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000080.4",
"gene_symbol": "CHRNE",
"hgnc_id": 1966,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*837A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Congenital myasthenic syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}