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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: 10-119912139-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119912139&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119912139,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007190.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "NM_007190.4",
"protein_id": "NP_009121.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369075.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007190.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000369075.8",
"protein_id": "ENSP00000358071.3",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369075.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000875162.1",
"protein_id": "ENSP00000545221.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1046,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875162.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000970232.1",
"protein_id": "ENSP00000640291.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1008,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970232.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000875157.1",
"protein_id": "ENSP00000545216.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875157.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000875161.1",
"protein_id": "ENSP00000545220.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875161.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000875163.1",
"protein_id": "ENSP00000545222.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875163.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000923026.1",
"protein_id": "ENSP00000593085.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923026.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000923027.1",
"protein_id": "ENSP00000593086.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923027.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "NM_001411070.1",
"protein_id": "NP_001397999.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 999,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411070.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000705471.1",
"protein_id": "ENSP00000516127.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 999,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705471.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000875159.1",
"protein_id": "ENSP00000545218.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 999,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875159.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000923030.1",
"protein_id": "ENSP00000593089.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 999,
"cds_start": 1287,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923030.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1275T>A",
"hgvs_p": "p.Asp425Glu",
"transcript": "ENST00000875160.1",
"protein_id": "ENSP00000545219.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 996,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875160.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1203T>A",
"hgvs_p": "p.Asp401Glu",
"transcript": "ENST00000923024.1",
"protein_id": "ENSP00000593083.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 972,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923024.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1203T>A",
"hgvs_p": "p.Asp401Glu",
"transcript": "ENST00000923025.1",
"protein_id": "ENSP00000593084.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 972,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923025.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000970233.1",
"protein_id": "ENSP00000640292.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 971,
"cds_start": 1287,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970233.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000923028.1",
"protein_id": "ENSP00000593087.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 970,
"cds_start": 1287,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923028.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu",
"transcript": "ENST00000923023.1",
"protein_id": "ENSP00000593082.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 948,
"cds_start": 1287,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923023.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.846T>A",
"hgvs_p": "p.Asp282Glu",
"transcript": "ENST00000923029.1",
"protein_id": "ENSP00000593088.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 853,
"cds_start": 846,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923029.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Asp181Glu",
"transcript": "ENST00000875158.1",
"protein_id": "ENSP00000545217.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 752,
"cds_start": 543,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875158.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23IP",
"gene_hgnc_id": 17018,
"hgvs_c": "c.399T>A",
"hgvs_p": "p.Asp133Glu",
"transcript": "ENST00000446561.1",
"protein_id": "ENSP00000396906.1",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 193,
"cds_start": 399,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446561.1"
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{
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{
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{
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"gene_symbol": "SEC23IP",
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"biotype": "pseudogene",
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],
"gene_symbol": "SEC23IP",
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"dbsnp": "rs17099368",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26600298285484314,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.018,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007190.4",
"gene_symbol": "SEC23IP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1287T>A",
"hgvs_p": "p.Asp429Glu"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}