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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: 17-41994929-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41994929&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41994929,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003315.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "NM_003315.4",
"protein_id": "NP_003306.3",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 494,
"cds_start": 421,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000457167.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003315.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000457167.9",
"protein_id": "ENSP00000406463.2",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 494,
"cds_start": 421,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003315.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457167.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000316603.12",
"protein_id": "ENSP00000313311.7",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316603.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.253G>A",
"hgvs_p": null,
"transcript": "ENST00000589810.5",
"protein_id": "ENSP00000467477.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000589810.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000674233.1",
"protein_id": "ENSP00000501456.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 497,
"cds_start": 421,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674233.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000904031.1",
"protein_id": "ENSP00000574090.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 493,
"cds_start": 421,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904031.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Ala128Thr",
"transcript": "ENST00000674214.1",
"protein_id": "ENSP00000501531.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 481,
"cds_start": 382,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674214.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Ala117Thr",
"transcript": "ENST00000674411.1",
"protein_id": "ENSP00000501509.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 465,
"cds_start": 349,
"cds_end": null,
"cds_length": 1399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674411.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Ala103Thr",
"transcript": "ENST00000674306.1",
"protein_id": "ENSP00000501356.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 456,
"cds_start": 307,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674306.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000968335.1",
"protein_id": "ENSP00000638394.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 446,
"cds_start": 421,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968335.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000904030.1",
"protein_id": "ENSP00000574089.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 445,
"cds_start": 421,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904030.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "NM_001144766.3",
"protein_id": "NP_001138238.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144766.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000426588.7",
"protein_id": "ENSP00000394327.2",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426588.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000590774.6",
"protein_id": "ENSP00000465340.2",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590774.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000674166.1",
"protein_id": "ENSP00000501364.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674166.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000674252.1",
"protein_id": "ENSP00000501366.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674252.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000674287.1",
"protein_id": "ENSP00000501482.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674287.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000674303.1",
"protein_id": "ENSP00000501468.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 438,
"cds_start": 253,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674303.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000674497.1",
"protein_id": "ENSP00000501438.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 435,
"cds_start": 253,
"cds_end": null,
"cds_length": 1310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674497.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000589576.6",
"protein_id": "ENSP00000468102.2",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 401,
"cds_start": 253,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589576.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Ala101Thr",
"transcript": "ENST00000674355.1",
"protein_id": "ENSP00000501508.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674355.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"transcript": "ENST00000674175.1",
"protein_id": "ENSP00000501429.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 347,
"cds_start": 421,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674175.1"
},
{
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "DNAJC7",
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"hgvs_c": "n.444G>A",
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"transcript": "XR_001752603.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001752603.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
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"transcript": "XR_007065438.1",
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "XR_007065438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 15,
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"intron_rank_end": null,
"gene_symbol": "DNAJC7",
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"hgvs_c": "n.*500G>A",
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"transcript": "ENST00000585866.6",
"protein_id": "ENSP00000466877.1",
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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": "ENST00000585866.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "DNAJC7",
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"hgvs_c": "n.*46G>A",
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"transcript": "ENST00000588814.5",
"protein_id": "ENSP00000466114.1",
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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,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588814.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.*51G>A",
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"transcript": "ENST00000674249.1",
"protein_id": "ENSP00000501327.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674249.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.*500G>A",
"hgvs_p": null,
"transcript": "ENST00000674504.1",
"protein_id": "ENSP00000501433.1",
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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": "nonsense_mediated_decay",
"feature": "ENST00000674504.1"
}
],
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"dbsnp": null,
"frequency_reference_population": 0.0000034210398,
"hom_count_reference_population": 1,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342104,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1178063452243805,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.489,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003315.4",
"gene_symbol": "DNAJC7",
"hgnc_id": 12392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr"
}
],
"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
}