← 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: 16-16083418-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16083418&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16083418,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000399410.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "NM_004996.4",
"protein_id": "NP_004987.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "ENST00000399410.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "ENST00000399410.8",
"protein_id": "ENSP00000382342.3",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "NM_004996.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2116-3406G>A",
"hgvs_p": null,
"transcript": "ENST00000572882.3",
"protein_id": "ENSP00000461615.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": -4,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "ENST00000399408.7",
"protein_id": "ENSP00000382340.4",
"transcript_support_level": 5,
"aa_start": 723,
"aa_end": null,
"aa_length": 1541,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2042G>A",
"hgvs_p": "p.Arg681Gln",
"transcript": "NM_019901.2",
"protein_id": "NP_063956.2",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1489,
"cds_start": 2042,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2021G>A",
"hgvs_p": "p.Arg674Gln",
"transcript": "NM_019902.2",
"protein_id": "NP_063957.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1482,
"cds_start": 2021,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "NM_019898.3",
"protein_id": "NP_063953.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1475,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln",
"transcript": "NM_001438755.1",
"protein_id": "NP_001425684.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1895G>A",
"hgvs_p": "p.Arg632Gln",
"transcript": "NM_001438715.1",
"protein_id": "NP_001425644.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1895,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 6231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1757G>A",
"hgvs_p": "p.Arg586Gln",
"transcript": "NM_001438717.1",
"protein_id": "NP_001425646.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1757,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2327G>A",
"hgvs_p": "p.Arg776Gln",
"transcript": "XM_047434131.1",
"protein_id": "XP_047290087.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1584,
"cds_start": 2327,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 3724,
"cdna_end": null,
"cdna_length": 7924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2222G>A",
"hgvs_p": "p.Arg741Gln",
"transcript": "XM_017023237.2",
"protein_id": "XP_016878726.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2222,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2201G>A",
"hgvs_p": "p.Arg734Gln",
"transcript": "XM_047434132.1",
"protein_id": "XP_047290088.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1542,
"cds_start": 2201,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 3598,
"cdna_end": null,
"cdna_length": 7798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2189G>A",
"hgvs_p": "p.Arg730Gln",
"transcript": "XM_047434133.1",
"protein_id": "XP_047290089.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1538,
"cds_start": 2189,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 3586,
"cdna_end": null,
"cdna_length": 7786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Arg729Gln",
"transcript": "XM_047434134.1",
"protein_id": "XP_047290090.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1537,
"cds_start": 2186,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2180G>A",
"hgvs_p": "p.Arg727Gln",
"transcript": "XM_047434135.1",
"protein_id": "XP_047290091.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1535,
"cds_start": 2180,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 3577,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715Gln",
"transcript": "XM_011522497.2",
"protein_id": "XP_011520799.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1523,
"cds_start": 2144,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2063G>A",
"hgvs_p": "p.Arg688Gln",
"transcript": "XM_047434137.1",
"protein_id": "XP_047290093.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1496,
"cds_start": 2063,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2030G>A",
"hgvs_p": "p.Arg677Gln",
"transcript": "XM_047434140.1",
"protein_id": "XP_047290096.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 1485,
"cds_start": 2030,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 6366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1904G>A",
"hgvs_p": "p.Arg635Gln",
"transcript": "XM_047434145.1",
"protein_id": "XP_047290101.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1443,
"cds_start": 1904,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 6240,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "n.408G>A",
"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": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "n.2168G>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2116-3406G>A",
"hgvs_p": null,
"transcript": "NM_019862.3",
"protein_id": "NP_063915.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": -4,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2115+3940G>A",
"hgvs_p": null,
"transcript": "NM_019899.3",
"protein_id": "NP_063954.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": -4,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1831-3406G>A",
"hgvs_p": null,
"transcript": "NM_001438718.1",
"protein_id": "NP_001425647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1989+3940G>A",
"hgvs_p": null,
"transcript": "NM_001438719.1",
"protein_id": "NP_001425648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1989+3940G>A",
"hgvs_p": null,
"transcript": "ENST00000677164.1",
"protein_id": "ENSP00000502873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1968+3940G>A",
"hgvs_p": null,
"transcript": "NM_001438720.1",
"protein_id": "NP_001425649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1367,
"cds_start": -4,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2275-3406G>A",
"hgvs_p": null,
"transcript": "XM_047434136.1",
"protein_id": "XP_047290092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2128-3406G>A",
"hgvs_p": null,
"transcript": "XM_047434142.1",
"protein_id": "XP_047290098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1476,
"cds_start": -4,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2274+3940G>A",
"hgvs_p": null,
"transcript": "XM_047434144.1",
"protein_id": "XP_047290100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1990-3406G>A",
"hgvs_p": null,
"transcript": "XM_047434147.1",
"protein_id": "XP_047290103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1430,
"cds_start": -4,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.1969-3406G>A",
"hgvs_p": null,
"transcript": "XM_047434148.1",
"protein_id": "XP_047290104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1423,
"cds_start": -4,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"dbsnp": "rs4148356",
"frequency_reference_population": 0.014263123,
"hom_count_reference_population": 404,
"allele_count_reference_population": 23018,
"gnomad_exomes_af": 0.0143511,
"gnomad_genomes_af": 0.0134187,
"gnomad_exomes_ac": 20975,
"gnomad_genomes_ac": 2043,
"gnomad_exomes_homalt": 368,
"gnomad_genomes_homalt": 36,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002491891384124756,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.176,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000399410.8",
"gene_symbol": "ABCC1",
"hgnc_id": 51,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723Gln"
}
],
"clinvar_disease": "Familial cancer of breast",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Familial cancer of breast",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}