← 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: 14-77428452-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77428452&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77428452,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022067.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "NM_001193315.2",
"protein_id": "NP_001180244.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557658.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193315.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000557658.6",
"protein_id": "ENSP00000452191.1",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001193315.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557658.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000343765.6",
"protein_id": "ENSP00000339122.2",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343765.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"transcript": "ENST00000556412.4",
"protein_id": "ENSP00000451857.1",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 519,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556412.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"transcript": "ENST00000897625.1",
"protein_id": "ENSP00000567684.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 501,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897625.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"transcript": "ENST00000897630.1",
"protein_id": "ENSP00000567689.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 501,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897630.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "NM_001193314.2",
"protein_id": "NP_001180243.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193314.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "NM_001193317.2",
"protein_id": "NP_001180246.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193317.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "NM_001400326.1",
"protein_id": "NP_001387255.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400326.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "NM_022067.4",
"protein_id": "NP_071350.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022067.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000553888.5",
"protein_id": "ENSP00000452181.1",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553888.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000897629.1",
"protein_id": "ENSP00000567688.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897629.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000951346.1",
"protein_id": "ENSP00000621405.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951346.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000951347.1",
"protein_id": "ENSP00000621406.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951347.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000951350.1",
"protein_id": "ENSP00000621409.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 493,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951350.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000951353.1",
"protein_id": "ENSP00000621412.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 488,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951353.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449His",
"transcript": "NM_001400327.1",
"protein_id": "NP_001387256.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 482,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400327.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000951349.1",
"protein_id": "ENSP00000621408.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 470,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951349.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "NM_001400330.1",
"protein_id": "NP_001387259.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 464,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400330.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "NM_001400331.1",
"protein_id": "NP_001387260.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 464,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400331.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "NM_001400332.1",
"protein_id": "NP_001387261.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 464,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400332.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "ENST00000897631.1",
"protein_id": "ENSP00000567690.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 464,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897631.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001400333.1",
"protein_id": "NP_001387262.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 462,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400333.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "NM_001400334.1",
"protein_id": "NP_001387263.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 462,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400334.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"transcript": "ENST00000897627.1",
"protein_id": "ENSP00000567686.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 462,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897627.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415His",
"transcript": "NM_001400336.1",
"protein_id": "NP_001387265.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 448,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400336.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415His",
"transcript": "ENST00000897628.1",
"protein_id": "ENSP00000567687.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 448,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897628.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415His",
"transcript": "ENST00000951352.1",
"protein_id": "ENSP00000621411.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 448,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951352.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "NM_001193316.2",
"protein_id": "NP_001180245.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 444,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193316.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "NM_001400324.1",
"protein_id": "NP_001387253.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 444,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400324.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "NM_001400325.1",
"protein_id": "NP_001387254.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 444,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400325.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "ENST00000327028.8",
"protein_id": "ENSP00000313098.5",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 444,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327028.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "ENST00000448935.6",
"protein_id": "ENSP00000404815.2",
"transcript_support_level": 2,
"aa_start": 411,
"aa_end": null,
"aa_length": 444,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448935.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "NM_001400337.1",
"protein_id": "NP_001387266.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 413,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400337.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1139G>A",
"hgvs_p": "p.Arg380His",
"transcript": "ENST00000951351.1",
"protein_id": "ENSP00000621410.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 413,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951351.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367His",
"transcript": "NM_001400338.1",
"protein_id": "NP_001387267.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 400,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400338.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365His",
"transcript": "NM_001400339.1",
"protein_id": "NP_001387268.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 398,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1356+554G>A",
"hgvs_p": null,
"transcript": "NM_001400335.1",
"protein_id": "NP_001387264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1356+554G>A",
"hgvs_p": null,
"transcript": "ENST00000897626.1",
"protein_id": "ENSP00000567685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897626.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1221+554G>A",
"hgvs_p": null,
"transcript": "ENST00000951348.1",
"protein_id": "ENSP00000621407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": null,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "n.1579G>A",
"hgvs_p": null,
"transcript": "NR_174476.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174476.1"
}
],
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"dbsnp": "rs754342872",
"frequency_reference_population": 0.000025405654,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000273653,
"gnomad_genomes_af": 0.00000657419,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9654788374900818,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.845,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.527,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.46,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BP6",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022067.4",
"gene_symbol": "VIPAS39",
"hgnc_id": 20347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}