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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: 9-94928479-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94928479&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 94928479,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001386066.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001193329.3",
"protein_id": "NP_001180258.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 819,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375315.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193329.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000375315.8",
"protein_id": "ENSP00000364464.2",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 819,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001193329.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375315.8"
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1365-26698C>T",
"hgvs_p": null,
"transcript": "ENST00000297979.9",
"protein_id": "ENSP00000297979.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297979.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386066.1",
"protein_id": "NP_001372995.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 859,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386066.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386068.1",
"protein_id": "NP_001372997.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 859,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386068.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386070.1",
"protein_id": "NP_001372999.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 820,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386070.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386075.1",
"protein_id": "NP_001373004.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 819,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386075.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000951986.1",
"protein_id": "ENSP00000622045.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 819,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951986.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000951987.1",
"protein_id": "ENSP00000622046.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 819,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951987.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386074.1",
"protein_id": "NP_001373003.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 798,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386074.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000951989.1",
"protein_id": "ENSP00000622048.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 784,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951989.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000939095.1",
"protein_id": "ENSP00000609154.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 783,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939095.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000951988.1",
"protein_id": "ENSP00000622047.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 780,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951988.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386063.2",
"protein_id": "NP_001372992.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 773,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386063.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386076.1",
"protein_id": "NP_001373005.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 732,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386076.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Arg430Cys",
"transcript": "NM_001386062.2",
"protein_id": "NP_001372991.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 712,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386062.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001193331.3",
"protein_id": "NP_001180260.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 566,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193331.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386071.1",
"protein_id": "NP_001373000.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 566,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386071.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "ENST00000277198.6",
"protein_id": "ENSP00000277198.2",
"transcript_support_level": 2,
"aa_start": 537,
"aa_end": null,
"aa_length": 566,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277198.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001386072.1",
"protein_id": "NP_001373001.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 555,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386072.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001386073.1",
"protein_id": "NP_001373002.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 265,
"cds_start": 739,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386073.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "XM_047423978.1",
"protein_id": "XP_047279934.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 819,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
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"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_169862.1"
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "n.1553-26698C>T",
"hgvs_p": null,
"transcript": "NR_169863.2",
"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_169863.2"
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "n.1553-26698C>T",
"hgvs_p": null,
"transcript": "NR_169864.1",
"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_169864.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "n.1386-26698C>T",
"hgvs_p": null,
"transcript": "NR_169866.1",
"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_169866.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "n.318+4304C>T",
"hgvs_p": null,
"transcript": "NR_169867.1",
"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_169867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP-AS1",
"gene_hgnc_id": 58217,
"hgvs_c": "n.*72G>A",
"hgvs_p": null,
"transcript": "ENST00000439872.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000439872.1"
}
],
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"dbsnp": "rs1019446111",
"frequency_reference_population": 0.000009675497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000858279,
"gnomad_genomes_af": 0.0000197158,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23094779253005981,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.633,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386066.1",
"gene_symbol": "AOPEP",
"hgnc_id": 1361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_147613.1",
"gene_symbol": "AOPEP-AS1",
"hgnc_id": 58217,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.672G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}