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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: 19-4688787-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4688787&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4688787,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139159.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_139159.5",
"protein_id": "NP_631898.3",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "ENST00000262960.14",
"protein_id": "ENSP00000262960.8",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384611.1",
"protein_id": "NP_001371540.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384612.1",
"protein_id": "NP_001371541.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384613.1",
"protein_id": "NP_001371542.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384614.1",
"protein_id": "NP_001371543.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384615.1",
"protein_id": "NP_001371544.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "ENST00000600621.6",
"protein_id": "ENSP00000472549.2",
"transcript_support_level": 4,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "ENST00000601130.6",
"protein_id": "ENSP00000471629.2",
"transcript_support_level": 4,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "ENST00000855533.1",
"protein_id": "ENSP00000525592.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "ENST00000855534.1",
"protein_id": "ENSP00000525593.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 892,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384617.1",
"protein_id": "NP_001371546.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 890,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "ENST00000855532.1",
"protein_id": "ENSP00000525591.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 890,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1849C>A",
"hgvs_p": "p.Arg617Ser",
"transcript": "ENST00000955625.1",
"protein_id": "ENSP00000625684.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 890,
"cds_start": 1849,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384618.1",
"protein_id": "NP_001371547.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 883,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1822C>A",
"hgvs_p": "p.Arg608Ser",
"transcript": "NM_001384619.1",
"protein_id": "NP_001371548.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 881,
"cds_start": 1822,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Ser",
"transcript": "ENST00000922035.1",
"protein_id": "ENSP00000592094.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 880,
"cds_start": 1819,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1816C>A",
"hgvs_p": "p.Arg606Ser",
"transcript": "NM_001384620.1",
"protein_id": "NP_001371549.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 879,
"cds_start": 1816,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1816C>A",
"hgvs_p": "p.Arg606Ser",
"transcript": "NM_001384621.1",
"protein_id": "NP_001371550.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 879,
"cds_start": 1816,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser",
"transcript": "NM_001384622.1",
"protein_id": "NP_001371551.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 865,
"cds_start": 1855,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1768C>A",
"hgvs_p": "p.Arg590Ser",
"transcript": "NM_001384623.1",
"protein_id": "NP_001371552.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 863,
"cds_start": 1768,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "c.1768C>A",
"hgvs_p": "p.Arg590Ser",
"transcript": "NM_001384624.1",
"protein_id": "NP_001371553.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 863,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2592,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
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"hgvs_c": "n.2222C>A",
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"transcript": "NR_169286.1",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169286.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "n.2011C>A",
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"transcript": "NR_169289.1",
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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_169289.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"hgvs_c": "n.2108C>A",
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"transcript": "NR_169290.1",
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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_169290.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP9",
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"hgvs_c": "n.2078C>A",
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"transcript": "NR_169291.1",
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"aa_end": null,
"aa_length": null,
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"cdna_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169291.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP9-AS1",
"gene_hgnc_id": 50706,
"hgvs_c": "n.401+1082G>T",
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"transcript": "ENST00000715917.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715917.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP9-AS1",
"gene_hgnc_id": 50706,
"hgvs_c": "n.361+1082G>T",
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"transcript": "ENST00000715918.1",
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"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": "ENST00000715918.1"
}
],
"gene_symbol": "DPP9",
"gene_hgnc_id": 18648,
"dbsnp": "rs369048539",
"frequency_reference_population": 0.0000061241903,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000607287,
"gnomad_genomes_af": 0.00000656823,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12972936034202576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.1302,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.008,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139159.5",
"gene_symbol": "DPP9",
"hgnc_id": 18648,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1855C>A",
"hgvs_p": "p.Arg619Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715917.1",
"gene_symbol": "DPP9-AS1",
"hgnc_id": 50706,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.401+1082G>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
}