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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: 4-82819090-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=82819090&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 82819090,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001400154.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3647A>G",
"hgvs_p": "p.Asn1216Ser",
"transcript": "NM_001077207.4",
"protein_id": "NP_001070675.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3647,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395310.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077207.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3647A>G",
"hgvs_p": "p.Asn1216Ser",
"transcript": "ENST00000395310.7",
"protein_id": "ENSP00000378721.2",
"transcript_support_level": 1,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3647,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395310.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3602A>G",
"hgvs_p": "p.Asn1201Ser",
"transcript": "ENST00000508502.5",
"protein_id": "ENSP00000424635.1",
"transcript_support_level": 1,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3602,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508502.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3530A>G",
"hgvs_p": "p.Asn1177Ser",
"transcript": "ENST00000348405.8",
"protein_id": "ENSP00000337602.5",
"transcript_support_level": 1,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348405.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"transcript": "ENST00000505984.5",
"protein_id": "ENSP00000424451.1",
"transcript_support_level": 1,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3485,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505984.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3305A>G",
"hgvs_p": "p.Asn1102Ser",
"transcript": "ENST00000311785.11",
"protein_id": "ENSP00000309070.7",
"transcript_support_level": 1,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311785.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3188A>G",
"hgvs_p": "p.Asn1063Ser",
"transcript": "ENST00000513858.5",
"protein_id": "ENSP00000426886.1",
"transcript_support_level": 1,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513858.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Asn378Ser",
"transcript": "ENST00000503937.5",
"protein_id": "ENSP00000422371.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 382,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503937.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Asn1247Ser",
"transcript": "NM_001400154.1",
"protein_id": "NP_001387083.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3740,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400154.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Asn1247Ser",
"transcript": "NM_001400155.1",
"protein_id": "NP_001387084.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3740,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400155.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Asn1247Ser",
"transcript": "ENST00000505472.5",
"protein_id": "ENSP00000421633.1",
"transcript_support_level": 5,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3740,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505472.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3695A>G",
"hgvs_p": "p.Asn1232Ser",
"transcript": "NM_001400156.1",
"protein_id": "NP_001387085.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400156.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3695A>G",
"hgvs_p": "p.Asn1232Ser",
"transcript": "ENST00000854381.1",
"protein_id": "ENSP00000524440.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854381.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3695A>G",
"hgvs_p": "p.Asn1232Ser",
"transcript": "ENST00000951360.1",
"protein_id": "ENSP00000621419.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951360.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3686A>G",
"hgvs_p": "p.Asn1229Ser",
"transcript": "NM_001400157.1",
"protein_id": "NP_001387086.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400157.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3686A>G",
"hgvs_p": "p.Asn1229Ser",
"transcript": "NM_001400158.1",
"protein_id": "NP_001387087.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400158.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3686A>G",
"hgvs_p": "p.Asn1229Ser",
"transcript": "NM_001400159.1",
"protein_id": "NP_001387088.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400159.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3662A>G",
"hgvs_p": "p.Asn1221Ser",
"transcript": "NM_001400160.1",
"protein_id": "NP_001387089.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3662,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400160.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3662A>G",
"hgvs_p": "p.Asn1221Ser",
"transcript": "NM_001400161.1",
"protein_id": "NP_001387090.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3662,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400161.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3656A>G",
"hgvs_p": "p.Asn1219Ser",
"transcript": "NM_001400162.1",
"protein_id": "NP_001387091.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400162.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3647A>G",
"hgvs_p": "p.Asn1216Ser",
"transcript": "NM_001318120.2",
"protein_id": "NP_001305049.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3647,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318120.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3647A>G",
"hgvs_p": "p.Asn1216Ser",
"transcript": "NM_001400164.1",
"protein_id": "NP_001387093.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1220,
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{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"exon_count": 16,
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},
{
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"protein_coding": true,
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],
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"exon_count": 15,
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"gene_symbol": "SEC31A",
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"protein_id": "ENSP00000621421.1",
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"biotype": "protein_coding",
"feature": "ENST00000951362.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 8,
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"gene_symbol": "SEC31A",
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"protein_id": "ENSP00000592864.1",
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"feature": "ENST00000922805.1"
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{
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"protein_coding": true,
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"missense_variant"
],
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"gene_symbol": "SEC31A",
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"hgvs_c": "c.527A>G",
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"transcript": "ENST00000515062.5",
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"biotype": "protein_coding",
"feature": "ENST00000515062.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "SEC31A",
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"hgvs_c": "n.579A>G",
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"transcript": "ENST00000505479.1",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505479.1"
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],
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"dbsnp": "rs142745636",
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"hom_count_reference_population": 1,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000130925,
"gnomad_genomes_af": 0.0000131299,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05746197700500488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.23,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001400154.1",
"gene_symbol": "SEC31A",
"hgnc_id": 17052,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Asn1247Ser"
}
],
"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
}