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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: 9-94955251-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94955251&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 94955251,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001193329.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001193329.3",
"protein_id": "NP_001180258.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 819,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "ENST00000375315.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"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.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "ENST00000375315.8",
"protein_id": "ENSP00000364464.2",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 819,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "NM_001193329.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.1439A>G",
"hgvs_p": "p.Lys480Arg",
"transcript": "ENST00000297979.9",
"protein_id": "ENSP00000297979.5",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 720,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386066.1",
"protein_id": "NP_001372995.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 859,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386068.1",
"protein_id": "NP_001372997.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 859,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386070.1",
"protein_id": "NP_001372999.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 820,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386075.1",
"protein_id": "NP_001373004.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 819,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386074.1",
"protein_id": "NP_001373003.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 798,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386063.2",
"protein_id": "NP_001372992.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 773,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Lys480Arg",
"transcript": "NM_001386069.1",
"protein_id": "NP_001372998.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 760,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "NM_001386076.1",
"protein_id": "NP_001373005.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 732,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.1439A>G",
"hgvs_p": "p.Lys480Arg",
"transcript": "NM_032823.6",
"protein_id": "NP_116212.3",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 720,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.1415A>G",
"hgvs_p": "p.Lys472Arg",
"transcript": "NM_001386062.2",
"protein_id": "NP_001372991.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 712,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Lys149Arg",
"transcript": "NM_001386061.1",
"protein_id": "NP_001372990.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 429,
"cds_start": 446,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"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.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "XM_047423978.1",
"protein_id": "XP_047279934.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 819,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "XM_011519121.4",
"protein_id": "XP_011517423.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 803,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 5521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Lys480Arg",
"transcript": "XM_047423979.1",
"protein_id": "XP_047279935.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 760,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "XM_047423980.1",
"protein_id": "XP_047279936.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 757,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 5302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "XM_047423981.1",
"protein_id": "XP_047279937.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 757,
"cds_start": 1736,
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"cdna_start": 1924,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "XM_047423982.1",
"protein_id": "XP_047279938.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 757,
"cds_start": 1736,
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"cds_length": 2274,
"cdna_start": 1924,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg",
"transcript": "XM_047423983.1",
"protein_id": "XP_047279939.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 757,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Lys480Arg",
"transcript": "XM_047423984.1",
"protein_id": "XP_047279940.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 721,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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"transcript": "XR_929854.3",
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 15,
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"gene_symbol": "AOPEP",
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"transcript": "XR_929855.3",
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3695,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "AOPEP",
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"hgvs_c": "n.2026A>G",
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"transcript": "XR_929857.3",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
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"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"hgvs_c": "c.1365-24116A>G",
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"transcript": "NM_001386067.1",
"protein_id": "NP_001372996.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AOPEP",
"gene_hgnc_id": 1361,
"dbsnp": "rs913767520",
"frequency_reference_population": 0.0000074383083,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000041067,
"gnomad_genomes_af": 0.0000394109,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46251243352890015,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.2153,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.13,
"phylop100way_prediction": "Uncertain_significance",
"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_001193329.3",
"gene_symbol": "AOPEP",
"hgnc_id": 1361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Lys579Arg"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}