← 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: 17-42022491-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42022491&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42022491,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017595.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "NM_017595.6",
"protein_id": "NP_060065.2",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393885.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017595.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000393885.9",
"protein_id": "ENSP00000377463.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017595.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393885.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000307641.9",
"protein_id": "ENSP00000303580.5",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307641.9"
},
{
"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": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "n.2076C>T",
"hgvs_p": null,
"transcript": "ENST00000393879.3",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000393879.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000316082.4",
"protein_id": "ENSP00000312773.4",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 229,
"cds_start": 187,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316082.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "NM_001001349.2",
"protein_id": "NP_001001349.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001349.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "NM_001144927.2",
"protein_id": "NP_001138399.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144927.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000393880.5",
"protein_id": "ENSP00000377458.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393880.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000393881.7",
"protein_id": "ENSP00000377459.3",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393881.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000891946.1",
"protein_id": "ENSP00000562005.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891946.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000920235.1",
"protein_id": "ENSP00000590294.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920235.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000953222.1",
"protein_id": "ENSP00000623281.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953222.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Arg29Trp",
"transcript": "ENST00000587337.1",
"protein_id": "ENSP00000468245.1",
"transcript_support_level": 4,
"aa_start": 29,
"aa_end": null,
"aa_length": 139,
"cds_start": 85,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587337.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "XM_047435822.1",
"protein_id": "XP_047291778.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435822.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "XM_047435823.1",
"protein_id": "XP_047291779.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 191,
"cds_start": 187,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435823.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "NM_001144928.2",
"protein_id": "NP_001138400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144928.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "ENST00000449471.8",
"protein_id": "ENSP00000401976.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449471.8"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "ENST00000891944.1",
"protein_id": "ENSP00000562003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891944.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "ENST00000891945.1",
"protein_id": "ENSP00000562004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891945.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "ENST00000920234.1",
"protein_id": "ENSP00000590293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920234.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "NM_001144929.2",
"protein_id": "NP_001138401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144929.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "ENST00000479407.5",
"protein_id": "ENSP00000465633.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479407.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.94+820C>T",
"hgvs_p": null,
"transcript": "ENST00000462043.6",
"protein_id": "ENSP00000419929.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462043.6"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "XM_047435825.1",
"protein_id": "XP_047291781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435825.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.168+19C>T",
"hgvs_p": null,
"transcript": "XM_047435826.1",
"protein_id": "XP_047291782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "n.*81C>T",
"hgvs_p": null,
"transcript": "ENST00000491638.5",
"protein_id": "ENSP00000465588.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000491638.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "n.*81C>T",
"hgvs_p": null,
"transcript": "ENST00000491638.5",
"protein_id": "ENSP00000465588.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000491638.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "n.168+19C>T",
"hgvs_p": null,
"transcript": "ENST00000485789.5",
"protein_id": "ENSP00000466135.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000485789.5"
},
{
"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": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.*47C>T",
"hgvs_p": null,
"transcript": "ENST00000585955.5",
"protein_id": "ENSP00000468081.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585955.5"
}
],
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"dbsnp": "rs782370487",
"frequency_reference_population": 0.000020448275,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000205242,
"gnomad_genomes_af": 0.0000197192,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7791717052459717,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.625,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5144,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.59,
"phylop100way_prediction": "Benign",
"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": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017595.6",
"gene_symbol": "NKIRAS2",
"hgnc_id": 17898,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp"
}
],
"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
}