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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: 7-29146736-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29146736&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29146736,
"ref": "T",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001398427.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.-511T>G",
"hgvs_p": null,
"transcript": "NM_001398427.1",
"protein_id": "NP_001385356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.-589T>G",
"hgvs_p": null,
"transcript": "XM_011515105.3",
"protein_id": "XP_011513407.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515105.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.-550T>G",
"hgvs_p": null,
"transcript": "XM_011515106.3",
"protein_id": "XP_011513408.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515106.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371264.1",
"protein_id": "NP_001358193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001348052.1",
"protein_id": "NP_001334981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001348054.1",
"protein_id": "NP_001334983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371255.1",
"protein_id": "NP_001358184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371255.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371256.1",
"protein_id": "NP_001358185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371257.1",
"protein_id": "NP_001358186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371258.1",
"protein_id": "NP_001358187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371260.1",
"protein_id": "NP_001358189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3205,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001371260.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
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"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371261.1",
"protein_id": "NP_001358190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371261.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371262.1",
"protein_id": "NP_001358191.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001371262.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "CPVL",
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"hgvs_c": "c.-10-25665A>C",
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"transcript": "NM_001371263.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "ENST00000409850.5",
"protein_id": "ENSP00000387164.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000409850.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPVL",
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"hgvs_c": "c.-10-25665A>C",
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"transcript": "ENST00000886318.1",
"protein_id": "ENSP00000556377.1",
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"biotype": "protein_coding",
"feature": "ENST00000886318.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "ENST00000886319.1",
"protein_id": "ENSP00000556378.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886319.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-11+120A>C",
"hgvs_p": null,
"transcript": "ENST00000886320.1",
"protein_id": "ENSP00000556379.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "CPVL",
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"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "ENST00000933745.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPVL",
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"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null,
"transcript": "ENST00000959721.1",
"protein_id": "ENSP00000629780.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPVL",
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"hgvs_c": "c.-496-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371265.1",
"protein_id": "NP_001358194.1",
"transcript_support_level": null,
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"aa_length": 406,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371265.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-364-25665A>C",
"hgvs_p": null,
"transcript": "NM_001371266.1",
"protein_id": "NP_001358195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371266.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515437.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-318A>C",
"hgvs_p": null,
"transcript": "XM_017012366.2",
"protein_id": "XP_016867855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012366.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.-406A>C",
"hgvs_p": null,
"transcript": "XM_047420531.1",
"protein_id": "XP_047276487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420531.1"
}
],
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"dbsnp": "rs763980926",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.000755196,
"gnomad_genomes_af": 0.0000263425,
"gnomad_exomes_ac": 1050,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.825,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001398427.1",
"gene_symbol": "CHN2",
"hgnc_id": 1944,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-511T>G",
"hgvs_p": null
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001371264.1",
"gene_symbol": "CPVL",
"hgnc_id": 14399,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-10-25665A>C",
"hgvs_p": null
}
],
"clinvar_disease": "CHN2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CHN2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}