← 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: 7-99849628-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99849628&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99849628,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354829.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_057095.3",
"protein_id": "NP_476436.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 503,
"cds_start": 604,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": "ENST00000354829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "ENST00000354829.7",
"protein_id": "ENSP00000346887.3",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 503,
"cds_start": 604,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": "NM_057095.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "ENST00000222382.5",
"protein_id": "ENSP00000222382.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 504,
"cds_start": 604,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "ENST00000312017.9",
"protein_id": "ENSP00000312110.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 420,
"cds_start": 604,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1349,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.604C>T",
"hgvs_p": null,
"transcript": "ENST00000434806.5",
"protein_id": "ENSP00000411653.1",
"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": 1633,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*297C>T",
"hgvs_p": null,
"transcript": "ENST00000436834.5",
"protein_id": "ENSP00000415221.1",
"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": 1279,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*297C>T",
"hgvs_p": null,
"transcript": "ENST00000436834.5",
"protein_id": "ENSP00000415221.1",
"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": 1279,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.341-5963C>T",
"hgvs_p": null,
"transcript": "ENST00000417625.5",
"protein_id": "ENSP00000416581.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_022820.5",
"protein_id": "NP_073731.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 504,
"cds_start": 604,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_057096.4",
"protein_id": "NP_476437.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 420,
"cds_start": 604,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"transcript": "XM_047420745.1",
"protein_id": "XP_047276701.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 394,
"cds_start": 274,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"transcript": "XM_047420746.1",
"protein_id": "XP_047276702.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 394,
"cds_start": 274,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017012544.2",
"protein_id": "XP_016868033.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 360,
"cds_start": 172,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017012545.2",
"protein_id": "XP_016868034.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 360,
"cds_start": 172,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1244,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*173C>T",
"hgvs_p": null,
"transcript": "ENST00000433277.5",
"protein_id": "ENSP00000400316.1",
"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": 1313,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.1068C>T",
"hgvs_p": null,
"transcript": "ENST00000481362.5",
"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": 1848,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.571C>T",
"hgvs_p": null,
"transcript": "NR_103868.2",
"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": 1401,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.707C>T",
"hgvs_p": null,
"transcript": "NR_103869.2",
"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": 1828,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*173C>T",
"hgvs_p": null,
"transcript": "ENST00000433277.5",
"protein_id": "ENSP00000400316.1",
"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": 1313,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.341-5963C>T",
"hgvs_p": null,
"transcript": "NM_001278921.2",
"protein_id": "NP_001265850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1377,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.166-7205C>T",
"hgvs_p": null,
"transcript": "ENST00000415413.5",
"protein_id": "ENSP00000401521.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 990,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.40-7205C>T",
"hgvs_p": null,
"transcript": "ENST00000444905.5",
"protein_id": "ENSP00000405557.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.139-10202C>T",
"hgvs_p": null,
"transcript": "ENST00000463915.5",
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.341+1374C>T",
"hgvs_p": null,
"transcript": "ENST00000477658.5",
"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": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.139-5963C>T",
"hgvs_p": null,
"transcript": "ENST00000491648.5",
"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": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.139-10202C>T",
"hgvs_p": null,
"transcript": "ENST00000495115.5",
"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": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"dbsnp": "rs200371261",
"frequency_reference_population": 0.00001860172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000123246,
"gnomad_genomes_af": 0.0000788126,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2163318693637848,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2183,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.092,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354829.7",
"gene_symbol": "CYP3A43",
"hgnc_id": 17450,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}