← Back to variant description
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: 14-94290457-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94290457&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94290457,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016186.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "NM_001100607.3",
"protein_id": "NP_001094077.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261994.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100607.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000261994.9",
"protein_id": "ENSP00000261994.4",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100607.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261994.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Lys86Arg",
"transcript": "ENST00000554723.5",
"protein_id": "ENSP00000450896.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 484,
"cds_start": 257,
"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": "ENST00000554723.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000393096.5",
"protein_id": "ENSP00000376809.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393096.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000554173.1",
"protein_id": "ENSP00000450971.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554173.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "NM_016186.3",
"protein_id": "NP_057270.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016186.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903617.1",
"protein_id": "ENSP00000573676.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903617.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903619.1",
"protein_id": "ENSP00000573678.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903619.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903620.1",
"protein_id": "ENSP00000573679.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903620.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903622.1",
"protein_id": "ENSP00000573681.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903622.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903623.1",
"protein_id": "ENSP00000573682.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903623.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903624.1",
"protein_id": "ENSP00000573683.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903624.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903625.1",
"protein_id": "ENSP00000573684.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903625.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903626.1",
"protein_id": "ENSP00000573685.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903626.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903627.1",
"protein_id": "ENSP00000573686.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903627.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903628.1",
"protein_id": "ENSP00000573687.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903628.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903629.1",
"protein_id": "ENSP00000573688.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903629.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903630.1",
"protein_id": "ENSP00000573689.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903630.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000943554.1",
"protein_id": "ENSP00000613613.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943554.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000943555.1",
"protein_id": "ENSP00000613614.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943555.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903621.1",
"protein_id": "ENSP00000573680.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 390,
"cds_start": 137,
"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": "ENST00000903621.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903618.1",
"protein_id": "ENSP00000573677.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 297,
"cds_start": 137,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903618.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903631.1",
"protein_id": "ENSP00000573690.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 297,
"cds_start": 137,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903631.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "ENST00000903632.1",
"protein_id": "ENSP00000573691.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 297,
"cds_start": 137,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903632.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Lys86Arg",
"transcript": "XM_017021353.2",
"protein_id": "XP_016876842.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 484,
"cds_start": 257,
"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": "XM_017021353.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg",
"transcript": "XM_005267733.6",
"protein_id": "XP_005267790.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 444,
"cds_start": 137,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267733.6"
}
],
"gene_symbol": "SERPINA10",
"gene_hgnc_id": 15996,
"dbsnp": "rs941590",
"frequency_reference_population": 0.43780482,
"hom_count_reference_population": 165640,
"allele_count_reference_population": 706145,
"gnomad_exomes_af": 0.426741,
"gnomad_genomes_af": 0.544081,
"gnomad_exomes_ac": 623399,
"gnomad_genomes_ac": 82746,
"gnomad_exomes_homalt": 140509,
"gnomad_genomes_homalt": 25131,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000010357013024986372,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.0702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.48,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016186.3",
"gene_symbol": "SERPINA10",
"hgnc_id": 15996,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Lys46Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}