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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: 10-79557426-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79557426&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 79557426,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320814.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "NM_001098668.4",
"protein_id": "NP_001092138.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372325.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098668.4"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000372325.7",
"protein_id": "ENSP00000361400.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098668.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372325.7"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000372327.9",
"protein_id": "ENSP00000361402.5",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372327.9"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.659T>A",
"hgvs_p": "p.Phe220Tyr",
"transcript": "ENST00000959071.1",
"protein_id": "ENSP00000629130.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 291,
"cds_start": 659,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959071.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000905087.1",
"protein_id": "ENSP00000575146.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905087.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000905092.1",
"protein_id": "ENSP00000575151.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905092.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000905105.1",
"protein_id": "ENSP00000575164.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905105.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000959077.1",
"protein_id": "ENSP00000629136.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959077.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000959082.1",
"protein_id": "ENSP00000629141.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959082.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000959085.1",
"protein_id": "ENSP00000629144.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959085.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Phe213Tyr",
"transcript": "ENST00000959088.1",
"protein_id": "ENSP00000629147.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 284,
"cds_start": 638,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959088.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.560T>A",
"hgvs_p": "p.Phe187Tyr",
"transcript": "NM_001320814.1",
"protein_id": "NP_001307743.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 258,
"cds_start": 560,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320814.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "NM_001320813.2",
"protein_id": "NP_001307742.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320813.2"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "NM_001437428.1",
"protein_id": "NP_001424357.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437428.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905085.1",
"protein_id": "ENSP00000575144.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905085.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905086.1",
"protein_id": "ENSP00000575145.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905086.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905088.1",
"protein_id": "ENSP00000575147.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905088.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905089.1",
"protein_id": "ENSP00000575148.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905089.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905090.1",
"protein_id": "ENSP00000575149.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905090.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905091.1",
"protein_id": "ENSP00000575150.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905091.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905093.1",
"protein_id": "ENSP00000575152.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905093.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "SFTPA2",
"gene_hgnc_id": 10799,
"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "ENST00000905094.1",
"protein_id": "ENSP00000575153.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 248,
"cds_start": 530,
"cds_end": null,
"cds_length": 747,
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{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"transcript": "XM_011540125.2",
"protein_id": "XP_011538427.1",
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"biotype": "protein_coding",
"feature": "XM_011540125.2"
},
{
"aa_ref": "F",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "SFTPA2",
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"hgvs_c": "c.530T>A",
"hgvs_p": "p.Phe177Tyr",
"transcript": "XM_047425706.1",
"protein_id": "XP_047281662.1",
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"aa_start": 177,
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"aa_length": 248,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425706.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SFTPA2",
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"hgvs_c": "c.*56T>A",
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"transcript": "ENST00000417041.1",
"protein_id": "ENSP00000397375.1",
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"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417041.1"
}
],
"gene_symbol": "SFTPA2",
"gene_hgnc_id": 10799,
"dbsnp": "rs762395469",
"frequency_reference_population": 0.000032870517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.000131357,
"gnomad_genomes_af": 0.0000328705,
"gnomad_exomes_ac": 192,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.272779256105423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.2853,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.624,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PM2,BP4,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 5,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001320814.1",
"gene_symbol": "SFTPA2",
"hgnc_id": 10799,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.560T>A",
"hgvs_p": "p.Phe187Tyr"
}
],
"clinvar_disease": "Interstitial lung disease 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Interstitial lung disease 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}