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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: 3-39143710-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39143710&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 39143710,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001320559.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "NM_033027.4",
"protein_id": "NP_149016.2",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273153.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033027.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000273153.10",
"protein_id": "ENSP00000273153.5",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033027.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273153.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000514182.1",
"protein_id": "ENSP00000422532.1",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514182.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1175C>T",
"hgvs_p": "p.Pro392Leu",
"transcript": "NM_001320559.2",
"protein_id": "NP_001307488.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 609,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320559.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "NM_001320560.2",
"protein_id": "NP_001307489.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320560.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909282.1",
"protein_id": "ENSP00000579341.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909282.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909283.1",
"protein_id": "ENSP00000579342.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909283.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909284.1",
"protein_id": "ENSP00000579343.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909284.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909285.1",
"protein_id": "ENSP00000579344.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909285.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909286.1",
"protein_id": "ENSP00000579345.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909286.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909288.1",
"protein_id": "ENSP00000579347.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909288.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909289.1",
"protein_id": "ENSP00000579348.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909289.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000909290.1",
"protein_id": "ENSP00000579349.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909290.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000938863.1",
"protein_id": "ENSP00000608922.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938863.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000958140.1",
"protein_id": "ENSP00000628199.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958140.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000958141.1",
"protein_id": "ENSP00000628200.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958141.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000958142.1",
"protein_id": "ENSP00000628201.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958142.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "ENST00000958143.1",
"protein_id": "ENSP00000628202.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958143.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"transcript": "ENST00000909287.1",
"protein_id": "ENSP00000579346.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 484,
"cds_start": 800,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909287.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"transcript": "ENST00000938864.1",
"protein_id": "ENSP00000608923.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
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"cds_start": 800,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938864.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"transcript": "ENST00000938865.1",
"protein_id": "ENSP00000608924.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 484,
"cds_start": 800,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938865.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "XM_047448721.1",
"protein_id": "XP_047304677.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 640,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448721.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "XM_047448723.1",
"protein_id": "XP_047304679.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448723.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Pro372Leu",
"transcript": "XM_047448724.1",
"protein_id": "XP_047304680.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 589,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448724.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Pro112Leu",
"transcript": "XM_017007049.2",
"protein_id": "XP_016862538.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 329,
"cds_start": 335,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007049.2"
}
],
"gene_symbol": "CSRNP1",
"gene_hgnc_id": 14300,
"dbsnp": "rs201834210",
"frequency_reference_population": 0.000058232315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.000058828,
"gnomad_genomes_af": 0.0000525155,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036356329917907715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.347,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001320559.2",
"gene_symbol": "CSRNP1",
"hgnc_id": 14300,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1175C>T",
"hgvs_p": "p.Pro392Leu"
}
],
"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
}