← 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: 16-19707022-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19707022&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19707022,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001348527.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "NM_001012991.3",
"protein_id": "NP_001013009.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219837.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012991.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000219837.12",
"protein_id": "ENSP00000219837.7",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012991.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219837.12"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1445G>C",
"hgvs_p": "p.Arg482Pro",
"transcript": "NM_001348527.2",
"protein_id": "NP_001335456.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 518,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348527.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "NM_001348528.2",
"protein_id": "NP_001335457.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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_001348528.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "NM_001348529.2",
"protein_id": "NP_001335458.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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_001348529.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "NM_001348530.2",
"protein_id": "NP_001335459.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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_001348530.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "NM_001348531.2",
"protein_id": "NP_001335460.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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_001348531.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000858467.1",
"protein_id": "ENSP00000528526.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000858467.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000858468.1",
"protein_id": "ENSP00000528527.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000858468.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000918604.1",
"protein_id": "ENSP00000588663.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000918604.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000918605.1",
"protein_id": "ENSP00000588664.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000918605.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000918606.1",
"protein_id": "ENSP00000588665.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000918606.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000918607.1",
"protein_id": "ENSP00000588666.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000918607.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000953642.1",
"protein_id": "ENSP00000623701.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 458,
"cds_start": 1265,
"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": "ENST00000953642.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Arg399Pro",
"transcript": "NM_001348532.2",
"protein_id": "NP_001335461.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 435,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348532.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Arg399Pro",
"transcript": "NM_001348533.2",
"protein_id": "NP_001335462.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 435,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348533.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Arg399Pro",
"transcript": "NM_001348534.2",
"protein_id": "NP_001335463.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 435,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348534.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Arg399Pro",
"transcript": "NM_001348535.2",
"protein_id": "NP_001335464.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 435,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348535.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Arg399Pro",
"transcript": "NM_001348536.2",
"protein_id": "NP_001335465.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 435,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348536.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Arg399Pro",
"transcript": "NM_001348537.2",
"protein_id": "NP_001335466.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 435,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348537.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1187G>C",
"hgvs_p": "p.Arg396Pro",
"transcript": "ENST00000918608.1",
"protein_id": "ENSP00000588667.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 432,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918608.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1118G>C",
"hgvs_p": "p.Arg373Pro",
"transcript": "ENST00000953641.1",
"protein_id": "ENSP00000623700.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 409,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953641.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.302G>C",
"hgvs_p": "p.Arg101Pro",
"transcript": "ENST00000568230.5",
"protein_id": "ENSP00000455015.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 137,
"cds_start": 302,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568230.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261312",
"gene_hgnc_id": null,
"hgvs_c": "n.672C>G",
"hgvs_p": null,
"transcript": "ENST00000565916.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000565916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.*143G>C",
"hgvs_p": null,
"transcript": "ENST00000567367.1",
"protein_id": "ENSP00000455369.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS35L",
"gene_hgnc_id": 24641,
"hgvs_c": "c.*1721C>G",
"hgvs_p": null,
"transcript": "ENST00000542027.3",
"protein_id": "ENSP00000457779.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542027.3"
}
],
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"dbsnp": "rs563764304",
"frequency_reference_population": 0.0000030978972,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273638,
"gnomad_genomes_af": 0.0000065697,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46867501735687256,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.9486,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.567,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001348527.2",
"gene_symbol": "KNOP1",
"hgnc_id": 34404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1445G>C",
"hgvs_p": "p.Arg482Pro"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000565916.1",
"gene_symbol": "ENSG00000261312",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.672C>G",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000542027.3",
"gene_symbol": "VPS35L",
"hgnc_id": 24641,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1721C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}