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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: 16-89636626-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89636626&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89636626,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004413.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "NM_001389466.1",
"protein_id": "NP_001376395.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000690203.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389466.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000690203.1",
"protein_id": "ENSP00000508584.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001389466.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690203.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000261615.5",
"protein_id": "ENSP00000261615.4",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261615.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000393092.7",
"protein_id": "ENSP00000376807.3",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393092.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "NM_001128141.3",
"protein_id": "NP_001121613.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128141.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "NM_001389467.1",
"protein_id": "NP_001376396.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389467.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "NM_001389468.1",
"protein_id": "NP_001376397.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389468.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "NM_001389469.1",
"protein_id": "NP_001376398.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389469.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "NM_004413.4",
"protein_id": "NP_004404.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004413.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000421184.5",
"protein_id": "ENSP00000397313.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421184.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000876490.1",
"protein_id": "ENSP00000546549.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876490.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000876491.1",
"protein_id": "ENSP00000546550.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876491.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000876492.1",
"protein_id": "ENSP00000546551.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876492.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000876493.1",
"protein_id": "ENSP00000546552.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876493.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000936229.1",
"protein_id": "ENSP00000606288.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936229.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000936233.1",
"protein_id": "ENSP00000606292.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936233.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000936234.1",
"protein_id": "ENSP00000606293.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 464,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936234.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000936230.1",
"protein_id": "ENSP00000606289.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 409,
"cds_start": 464,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936230.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000946841.1",
"protein_id": "ENSP00000616900.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 409,
"cds_start": 464,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946841.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Ala144Glu",
"transcript": "ENST00000936228.1",
"protein_id": "ENSP00000606287.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 400,
"cds_start": 431,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936228.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Ala144Glu",
"transcript": "ENST00000936232.1",
"protein_id": "ENSP00000606291.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 400,
"cds_start": 431,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936232.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu",
"transcript": "ENST00000936231.1",
"protein_id": "ENSP00000606290.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 399,
"cds_start": 464,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936231.1"
},
{
"aa_ref": "A",
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{
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},
{
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"feature": "XM_047433690.1"
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{
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"protein_coding": true,
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"missense_variant"
],
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"gene_symbol": "DPEP1",
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"transcript": "XM_047433693.1",
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{
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"protein_coding": true,
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],
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"gene_symbol": "DPEP1",
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"hgvs_c": "c.329C>A",
"hgvs_p": "p.Ala110Glu",
"transcript": "XM_024450173.2",
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"feature": "XM_024450173.2"
},
{
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"missense_variant"
],
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"gene_symbol": "DPEP1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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"gene_symbol": "DPEP1",
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"hgvs_c": "n.617C>A",
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"transcript": "ENST00000564281.5",
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"transcript_support_level": 5,
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"aa_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000564281.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 6,
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"gene_symbol": "DPEP1",
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"hgvs_c": "n.531C>A",
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"transcript": "ENST00000565249.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565249.5"
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],
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"dbsnp": "rs78315344",
"frequency_reference_population": 0.00001922321,
"hom_count_reference_population": 1,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000191739,
"gnomad_genomes_af": 0.0000196964,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11983931064605713,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.4341,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004413.4",
"gene_symbol": "DPEP1",
"hgnc_id": 3002,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Glu"
}
],
"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
}