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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: 9-41132278-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=41132278&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 41132278,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001085457.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"transcript": "NM_001085457.2",
"protein_id": "NP_001078926.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 395,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377391.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085457.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"transcript": "ENST00000377391.8",
"protein_id": "ENSP00000366608.4",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 395,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001085457.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377391.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Pro325Leu",
"transcript": "ENST00000456520.5",
"protein_id": "ENSP00000401079.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 376,
"cds_start": 974,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*576C>T",
"hgvs_p": null,
"transcript": "ENST00000382436.7",
"protein_id": "ENSP00000484049.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000382436.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*1596C>T",
"hgvs_p": null,
"transcript": "ENST00000486387.6",
"protein_id": "ENSP00000480837.1",
"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": "ENST00000486387.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*752C>T",
"hgvs_p": null,
"transcript": "ENST00000494538.6",
"protein_id": "ENSP00000484231.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494538.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.2074C>T",
"hgvs_p": null,
"transcript": "ENST00000611553.4",
"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": "ENST00000611553.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.2346C>T",
"hgvs_p": null,
"transcript": "ENST00000613125.4",
"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": "pseudogene",
"feature": "ENST00000613125.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*952C>T",
"hgvs_p": null,
"transcript": "ENST00000613716.5",
"protein_id": "ENSP00000482804.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000613716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*576C>T",
"hgvs_p": null,
"transcript": "ENST00000382436.7",
"protein_id": "ENSP00000484049.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000382436.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*1596C>T",
"hgvs_p": null,
"transcript": "ENST00000486387.6",
"protein_id": "ENSP00000480837.1",
"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": "ENST00000486387.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*752C>T",
"hgvs_p": null,
"transcript": "ENST00000494538.6",
"protein_id": "ENSP00000484231.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494538.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*952C>T",
"hgvs_p": null,
"transcript": "ENST00000613716.5",
"protein_id": "ENSP00000482804.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000613716.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Pro339Leu",
"transcript": "NM_001439294.1",
"protein_id": "NP_001426223.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439294.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Pro339Leu",
"transcript": "ENST00000894103.1",
"protein_id": "ENSP00000564162.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894103.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "NM_001386876.1",
"protein_id": "NP_001373805.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 375,
"cds_start": 971,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386876.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000894098.1",
"protein_id": "ENSP00000564157.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 375,
"cds_start": 971,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894098.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"transcript": "ENST00000894100.1",
"protein_id": "ENSP00000564159.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 364,
"cds_start": 938,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894100.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"transcript": "ENST00000894105.1",
"protein_id": "ENSP00000564164.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 361,
"cds_start": 929,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894105.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.926C>T",
"hgvs_p": "p.Pro309Leu",
"transcript": "ENST00000894104.1",
"protein_id": "ENSP00000564163.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 360,
"cds_start": 926,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894104.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Pro305Leu",
"transcript": "NM_001439295.1",
"protein_id": "NP_001426224.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 356,
"cds_start": 914,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439295.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Pro305Leu",
"transcript": "ENST00000894099.1",
"protein_id": "ENSP00000564158.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 356,
"cds_start": 914,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "ENST00000457288.2"
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{
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},
{
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "ZNG1F",
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"biotype": "retained_intron",
"feature": "ENST00000617917.4"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "ZNG1F",
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"feature": "ENST00000622791.4"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ENSG00000308937",
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"biotype": "pseudogene",
"feature": "ENST00000837379.1"
},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
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"gene_symbol": "ZNG1F",
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"transcript": "NR_170339.1",
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"biotype": "pseudogene",
"feature": "NR_170339.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "FRG1HP",
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"cdna_length": null,
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"biotype": "transcribed_unprocessed_pseudogene",
"feature": "ENST00000617940.2"
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],
"gene_symbol": "ZNG1F",
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"dbsnp": "rs746394061",
"frequency_reference_population": 0.0000048127563,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000481276,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11000216007232666,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.1098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.484,
"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_001085457.2",
"gene_symbol": "ZNG1F",
"hgnc_id": 31978,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000837379.1",
"gene_symbol": "ENSG00000308937",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.972G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617940.2",
"gene_symbol": "FRG1HP",
"hgnc_id": 51767,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.412-62823G>A",
"hgvs_p": null
}
],
"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
}