← 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: 16-16079370-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16079370&ref=C&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16079370,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000399410.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "NM_004996.4",
"protein_id": "NP_004987.2",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "ENST00000399410.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "ENST00000399410.8",
"protein_id": "ENSP00000382342.3",
"transcript_support_level": 1,
"aa_start": 669,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "NM_004996.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "ENST00000572882.3",
"protein_id": "ENSP00000461615.2",
"transcript_support_level": 1,
"aa_start": 669,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "ENST00000399408.7",
"protein_id": "ENSP00000382340.4",
"transcript_support_level": 5,
"aa_start": 669,
"aa_end": null,
"aa_length": 1541,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Pro627Pro",
"transcript": "NM_019901.2",
"protein_id": "NP_063956.2",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1881,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Pro620Pro",
"transcript": "NM_019902.2",
"protein_id": "NP_063957.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1482,
"cds_start": 1860,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "NM_019898.3",
"protein_id": "NP_063953.2",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1475,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "NM_019862.3",
"protein_id": "NP_063915.2",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "NM_001438755.1",
"protein_id": "NP_001425684.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1734C>T",
"hgvs_p": "p.Pro578Pro",
"transcript": "NM_001438715.1",
"protein_id": "NP_001425644.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1734,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 6231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "NM_019899.3",
"protein_id": "NP_063954.2",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1416,
"cds_start": 2007,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1596C>T",
"hgvs_p": "p.Pro532Pro",
"transcript": "NM_001438717.1",
"protein_id": "NP_001425646.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1596,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1722C>T",
"hgvs_p": "p.Pro574Pro",
"transcript": "NM_001438718.1",
"protein_id": "NP_001425647.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1377,
"cds_start": 1722,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Pro627Pro",
"transcript": "NM_001438719.1",
"protein_id": "NP_001425648.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 1374,
"cds_start": 1881,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Pro627Pro",
"transcript": "ENST00000677164.1",
"protein_id": "ENSP00000502873.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 1374,
"cds_start": 1881,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Pro620Pro",
"transcript": "NM_001438720.1",
"protein_id": "NP_001425649.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1860,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2166C>T",
"hgvs_p": "p.Pro722Pro",
"transcript": "XM_047434131.1",
"protein_id": "XP_047290087.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1584,
"cds_start": 2166,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 7924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Pro687Pro",
"transcript": "XM_017023237.2",
"protein_id": "XP_016878726.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2061,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Pro680Pro",
"transcript": "XM_047434132.1",
"protein_id": "XP_047290088.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 1542,
"cds_start": 2040,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 7798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2028C>T",
"hgvs_p": "p.Pro676Pro",
"transcript": "XM_047434133.1",
"protein_id": "XP_047290089.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1538,
"cds_start": 2028,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 7786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2025C>T",
"hgvs_p": "p.Pro675Pro",
"transcript": "XM_047434134.1",
"protein_id": "XP_047290090.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 1537,
"cds_start": 2025,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2019C>T",
"hgvs_p": "p.Pro673Pro",
"transcript": "XM_047434135.1",
"protein_id": "XP_047290091.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1535,
"cds_start": 2019,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2166C>T",
"hgvs_p": "p.Pro722Pro",
"transcript": "XM_047434136.1",
"protein_id": "XP_047290092.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1525,
"cds_start": 2166,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 7747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1983C>T",
"hgvs_p": "p.Pro661Pro",
"transcript": "XM_011522497.2",
"protein_id": "XP_011520799.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1523,
"cds_start": 1983,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1902C>T",
"hgvs_p": "p.Pro634Pro",
"transcript": "XM_047434137.1",
"protein_id": "XP_047290093.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1496,
"cds_start": 1902,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1869C>T",
"hgvs_p": "p.Pro623Pro",
"transcript": "XM_047434140.1",
"protein_id": "XP_047290096.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1485,
"cds_start": 1869,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 6366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2019C>T",
"hgvs_p": "p.Pro673Pro",
"transcript": "XM_047434142.1",
"protein_id": "XP_047290098.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1476,
"cds_start": 2019,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2166C>T",
"hgvs_p": "p.Pro722Pro",
"transcript": "XM_047434144.1",
"protein_id": "XP_047290100.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1469,
"cds_start": 2166,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1743C>T",
"hgvs_p": "p.Pro581Pro",
"transcript": "XM_047434145.1",
"protein_id": "XP_047290101.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1443,
"cds_start": 1743,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Pro627Pro",
"transcript": "XM_047434147.1",
"protein_id": "XP_047290103.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 1430,
"cds_start": 1881,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 6201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Pro620Pro",
"transcript": "XM_047434148.1",
"protein_id": "XP_047290104.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1423,
"cds_start": 1860,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6180,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "n.247C>T",
"hgvs_p": null,
"transcript": "ENST00000575422.5",
"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": 1198,
"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": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "n.2007C>T",
"hgvs_p": null,
"transcript": "ENST00000678422.1",
"protein_id": "ENSP00000503954.1",
"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": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"dbsnp": "rs2301666",
"frequency_reference_population": 0.0011691479,
"hom_count_reference_population": 27,
"allele_count_reference_population": 1887,
"gnomad_exomes_af": 0.00117192,
"gnomad_genomes_af": 0.00114259,
"gnomad_exomes_ac": 1713,
"gnomad_genomes_ac": 174,
"gnomad_exomes_homalt": 24,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.703,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000399410.8",
"gene_symbol": "ABCC1",
"hgnc_id": 51,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}