← 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: 7-128398557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128398557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128398557,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338791.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Asp311Asn",
"transcript": "NM_000883.4",
"protein_id": "NP_000874.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 599,
"cds_start": 931,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "ENST00000338791.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Asp311Asn",
"transcript": "ENST00000338791.11",
"protein_id": "ENSP00000345096.6",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 599,
"cds_start": 931,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "NM_000883.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"transcript": "ENST00000348127.11",
"protein_id": "ENSP00000265385.8",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 563,
"cds_start": 823,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Asp301Asn",
"transcript": "NM_001102605.2",
"protein_id": "NP_001096075.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 589,
"cds_start": 901,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Asp301Asn",
"transcript": "ENST00000354269.9",
"protein_id": "ENSP00000346219.5",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 589,
"cds_start": 901,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "NM_001142576.2",
"protein_id": "NP_001136048.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 566,
"cds_start": 832,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "ENST00000419067.6",
"protein_id": "ENSP00000399400.2",
"transcript_support_level": 3,
"aa_start": 278,
"aa_end": null,
"aa_length": 566,
"cds_start": 832,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"transcript": "NM_183243.3",
"protein_id": "NP_899066.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 563,
"cds_start": 823,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Asp242Asn",
"transcript": "NM_001304521.2",
"protein_id": "NP_001291450.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 530,
"cds_start": 724,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Asp226Asn",
"transcript": "NM_001142573.2",
"protein_id": "NP_001136045.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 514,
"cds_start": 676,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "ENST00000470772.5",
"protein_id": "ENSP00000417296.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 513,
"cds_start": 673,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Asp221Asn",
"transcript": "NM_001142574.2",
"protein_id": "NP_001136046.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 509,
"cds_start": 661,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Asp221Asn",
"transcript": "ENST00000480861.5",
"protein_id": "ENSP00000420185.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 509,
"cds_start": 661,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Asp188Asn",
"transcript": "ENST00000648462.1",
"protein_id": "ENSP00000496892.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 508,
"cds_start": 562,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Asp201Asn",
"transcript": "NM_001142575.2",
"protein_id": "NP_001136047.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 489,
"cds_start": 601,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Asp201Asn",
"transcript": "ENST00000496200.5",
"protein_id": "ENSP00000420803.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 489,
"cds_start": 601,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Asp242Asn",
"transcript": "ENST00000497868.5",
"protein_id": "ENSP00000419609.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 288,
"cds_start": 724,
"cds_end": null,
"cds_length": 867,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Asp301Asn",
"transcript": "XM_024446755.1",
"protein_id": "XP_024302523.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 621,
"cds_start": 901,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"transcript": "XM_024446756.1",
"protein_id": "XP_024302524.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 595,
"cds_start": 823,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Asp242Asn",
"transcript": "XM_024446757.2",
"protein_id": "XP_024302525.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 562,
"cds_start": 724,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"transcript": "XM_024446758.1",
"protein_id": "XP_024302526.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 554,
"cds_start": 700,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Asp105Asn",
"transcript": "XM_047420333.1",
"protein_id": "XP_047276289.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 425,
"cds_start": 313,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Asp301Asn",
"transcript": "XM_017012173.1",
"protein_id": "XP_016867662.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 415,
"cds_start": 901,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Asp105Asn",
"transcript": "XM_047420334.1",
"protein_id": "XP_047276290.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 393,
"cds_start": 313,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1973,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "n.520G>A",
"hgvs_p": null,
"transcript": "ENST00000468842.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000469328.5",
"protein_id": "ENSP00000420756.1",
"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": 2295,
"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": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "n.806G>A",
"hgvs_p": null,
"transcript": "ENST00000484496.6",
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000469328.5",
"protein_id": "ENSP00000420756.1",
"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": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"dbsnp": "rs121912550",
"frequency_reference_population": 6.8454796e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84548e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9448815584182739,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.833,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.874,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000338791.11",
"gene_symbol": "IMPDH1",
"hgnc_id": 6052,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Asp311Asn"
}
],
"clinvar_disease": "Retinal dystrophy,Retinitis pigmentosa 10,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Retinitis pigmentosa 10|not provided|Retinal dystrophy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}