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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: 19-4682766-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4682766&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4682766,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139159.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_139159.5",
"protein_id": "NP_631898.3",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262960.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139159.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "ENST00000262960.14",
"protein_id": "ENSP00000262960.8",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139159.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262960.14"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_001384611.1",
"protein_id": "NP_001371540.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384611.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_001384612.1",
"protein_id": "NP_001371541.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384612.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_001384613.1",
"protein_id": "NP_001371542.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384613.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_001384614.1",
"protein_id": "NP_001371543.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384614.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_001384615.1",
"protein_id": "NP_001371544.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384615.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "ENST00000600621.6",
"protein_id": "ENSP00000472549.2",
"transcript_support_level": 4,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600621.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "ENST00000601130.6",
"protein_id": "ENSP00000471629.2",
"transcript_support_level": 4,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601130.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "ENST00000855533.1",
"protein_id": "ENSP00000525592.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855533.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "ENST00000855534.1",
"protein_id": "ENSP00000525593.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 892,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855534.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Val800Ile",
"transcript": "NM_001384617.1",
"protein_id": "NP_001371546.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 890,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384617.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Val800Ile",
"transcript": "ENST00000855532.1",
"protein_id": "ENSP00000525591.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 890,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855532.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Val800Ile",
"transcript": "ENST00000955625.1",
"protein_id": "ENSP00000625684.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 890,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955625.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Val793Ile",
"transcript": "NM_001384618.1",
"protein_id": "NP_001371547.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 883,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384618.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Val791Ile",
"transcript": "NM_001384619.1",
"protein_id": "NP_001371548.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 881,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384619.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2368G>A",
"hgvs_p": "p.Val790Ile",
"transcript": "ENST00000922035.1",
"protein_id": "ENSP00000592094.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 880,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922035.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "NM_001384620.1",
"protein_id": "NP_001371549.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 879,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384620.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "NM_001384621.1",
"protein_id": "NP_001371550.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 879,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384621.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile",
"transcript": "NM_001384622.1",
"protein_id": "NP_001371551.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 865,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384622.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2317G>A",
"hgvs_p": "p.Val773Ile",
"transcript": "NM_001384623.1",
"protein_id": "NP_001371552.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 863,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384623.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.2317G>A",
"hgvs_p": "p.Val773Ile",
"transcript": "NM_001384624.1",
"protein_id": "NP_001371553.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 863,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2592,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
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"hgvs_c": "n.2593G>A",
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"transcript": "NR_169287.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169287.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
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"exon_count": 21,
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"gene_symbol": "DPP9",
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"hgvs_c": "n.2560G>A",
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"transcript": "NR_169289.1",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_169289.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
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"hgvs_c": "n.2657G>A",
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"transcript": "NR_169290.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_169290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
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"hgvs_c": "n.2627G>A",
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"transcript": "NR_169291.1",
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "n.*103G>A",
"hgvs_p": null,
"transcript": "ENST00000646573.2",
"protein_id": "ENSP00000496196.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646573.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP9-AS1",
"gene_hgnc_id": 50706,
"hgvs_c": "n.259-35C>T",
"hgvs_p": null,
"transcript": "ENST00000381796.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000381796.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "n.493+711G>A",
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"transcript": "ENST00000601720.5",
"protein_id": null,
"transcript_support_level": 3,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000601720.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP9-AS1",
"gene_hgnc_id": 50706,
"hgvs_c": "n.259-35C>T",
"hgvs_p": null,
"transcript": "NR_164163.1",
"protein_id": null,
"transcript_support_level": null,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164163.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "n.*178G>A",
"hgvs_p": null,
"transcript": "ENST00000601173.1",
"protein_id": null,
"transcript_support_level": 3,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000601173.1"
}
],
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"dbsnp": "rs772798495",
"frequency_reference_population": 0.00005230119,
"hom_count_reference_population": 0,
"allele_count_reference_population": 84,
"gnomad_exomes_af": 0.0000515904,
"gnomad_genomes_af": 0.0000590846,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08800297975540161,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.64,
"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": -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_139159.5",
"gene_symbol": "DPP9",
"hgnc_id": 18648,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Val802Ile"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000381796.1",
"gene_symbol": "DPP9-AS1",
"hgnc_id": 50706,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-35C>T",
"hgvs_p": null
}
],
"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
}