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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: 17-47531382-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47531382&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47531382,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001411130.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "NM_006310.4",
"protein_id": "NP_006301.3",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 919,
"cds_start": 82,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": "ENST00000322157.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006310.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000322157.9",
"protein_id": "ENSP00000320324.4",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 919,
"cds_start": 82,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": "NM_006310.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322157.9"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.82G>C",
"hgvs_p": null,
"transcript": "ENST00000527298.5",
"protein_id": "ENSP00000434585.1",
"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": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527298.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.78-8G>C",
"hgvs_p": null,
"transcript": "ENST00000526247.6",
"protein_id": "ENSP00000433735.1",
"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": 678,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526247.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "NM_001411130.1",
"protein_id": "NP_001398059.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 924,
"cds_start": 82,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411130.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000677370.1",
"protein_id": "ENSP00000503738.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 924,
"cds_start": 82,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677370.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000677120.1",
"protein_id": "ENSP00000503682.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 919,
"cds_start": 82,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677120.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000922449.1",
"protein_id": "ENSP00000592508.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 82,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922449.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000972331.1",
"protein_id": "ENSP00000642390.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 900,
"cds_start": 82,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972331.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000532729.6",
"protein_id": "ENSP00000434554.2",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 478,
"cds_start": 82,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532729.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.78-8G>C",
"hgvs_p": null,
"transcript": "NM_001330257.2",
"protein_id": "NP_001317186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": null,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.78-8G>C",
"hgvs_p": null,
"transcript": "ENST00000530173.6",
"protein_id": "ENSP00000433287.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": null,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530173.6"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.78-35G>C",
"hgvs_p": null,
"transcript": "ENST00000525007.5",
"protein_id": "ENSP00000437019.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525007.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "c.78-8G>C",
"hgvs_p": null,
"transcript": "XM_017025373.1",
"protein_id": "XP_016880862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025373.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.114G>C",
"hgvs_p": null,
"transcript": "ENST00000528751.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528751.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.167G>C",
"hgvs_p": null,
"transcript": "ENST00000533573.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000533573.5"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.82G>C",
"hgvs_p": null,
"transcript": "ENST00000677664.1",
"protein_id": "ENSP00000503284.1",
"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": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677664.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.82G>C",
"hgvs_p": null,
"transcript": "ENST00000678262.1",
"protein_id": "ENSP00000503773.1",
"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": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678262.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.82G>C",
"hgvs_p": null,
"transcript": "ENST00000678461.1",
"protein_id": "ENSP00000504752.1",
"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": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678461.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.114G>C",
"hgvs_p": null,
"transcript": "ENST00000678496.1",
"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": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678496.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.82G>C",
"hgvs_p": null,
"transcript": "ENST00000678909.1",
"protein_id": "ENSP00000503450.1",
"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": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678909.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.114G>C",
"hgvs_p": null,
"transcript": "ENST00000700479.1",
"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": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700479.1"
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{
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"strand": true,
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{
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],
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},
{
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"strand": true,
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],
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"transcript": "ENST00000700497.1",
"protein_id": "ENSP00000515023.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700497.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "NPEPPS",
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"feature": "ENST00000700498.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "NPEPPS",
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"hgvs_c": "n.119+8319G>C",
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"biotype": "pseudogene",
"feature": "ENST00000525037.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
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"gene_symbol": "NPEPPS",
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"hgvs_c": "n.78-8G>C",
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"transcript": "ENST00000677226.1",
"protein_id": "ENSP00000504389.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677226.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "NPEPPS",
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"hgvs_c": "n.78-8G>C",
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"transcript": "ENST00000677710.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677710.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"hgvs_c": "n.-6G>C",
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"transcript": "ENST00000534691.1",
"protein_id": "ENSP00000433649.2",
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"cds_end": null,
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"cdna_length": 548,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534691.1"
}
],
"gene_symbol": "NPEPPS",
"gene_hgnc_id": 7900,
"dbsnp": "rs1907751929",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000066811,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0545676052570343,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.935,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001411130.1",
"gene_symbol": "NPEPPS",
"hgnc_id": 7900,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}