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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: 8-124518820-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124518820&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124518820,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001317889.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "NM_032026.4",
"protein_id": "NP_114415.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 297,
"cds_start": 200,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276692.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032026.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000276692.11",
"protein_id": "ENSP00000276692.6",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 297,
"cds_start": 200,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276692.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asn20Ser",
"transcript": "ENST00000519548.5",
"protein_id": "ENSP00000428336.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 250,
"cds_start": 59,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "n.200A>G",
"hgvs_p": null,
"transcript": "ENST00000523214.5",
"protein_id": "ENSP00000428609.1",
"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": "ENST00000523214.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Met9Val",
"transcript": "XM_006716669.4",
"protein_id": "XP_006716732.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 300,
"cds_start": 25,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716669.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Met9Val",
"transcript": "XM_047422300.1",
"protein_id": "XP_047278256.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 300,
"cds_start": 25,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422300.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Met9Val",
"transcript": "XM_017013897.3",
"protein_id": "XP_016869386.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 264,
"cds_start": 25,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013897.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "NM_001317889.1",
"protein_id": "NP_001304818.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 333,
"cds_start": 200,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317889.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000933709.1",
"protein_id": "ENSP00000603768.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 332,
"cds_start": 200,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933709.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000522810.5",
"protein_id": "ENSP00000430274.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 321,
"cds_start": 200,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522810.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000933710.1",
"protein_id": "ENSP00000603769.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 313,
"cds_start": 200,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933710.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Asn45Ser",
"transcript": "ENST00000866114.1",
"protein_id": "ENSP00000536173.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 311,
"cds_start": 134,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866114.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000933711.1",
"protein_id": "ENSP00000603770.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 272,
"cds_start": 200,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933711.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asn20Ser",
"transcript": "NM_001146160.1",
"protein_id": "NP_001139632.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 250,
"cds_start": 59,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146160.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.Asn45Ser",
"transcript": "ENST00000933713.1",
"protein_id": "ENSP00000603772.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 250,
"cds_start": 134,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933713.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000866113.1",
"protein_id": "ENSP00000536172.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 249,
"cds_start": 200,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866113.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000933716.1",
"protein_id": "ENSP00000603775.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 229,
"cds_start": 200,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933716.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000605953.5",
"protein_id": "ENSP00000476180.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 210,
"cds_start": 200,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605953.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Asn96Ser",
"transcript": "ENST00000519232.5",
"protein_id": "ENSP00000430481.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 200,
"cds_start": 287,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519232.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.-49A>G",
"hgvs_p": null,
"transcript": "NM_001317891.1",
"protein_id": "NP_001304820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317891.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "ENST00000933715.1",
"protein_id": "ENSP00000603774.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 143,
"cds_start": 200,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933715.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"feature": "ENST00000521973.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000522310.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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"hgvs_c": "n.134A>G",
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"transcript": "ENST00000522927.5",
"protein_id": "ENSP00000431052.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522927.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 13,
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"gene_symbol": "TATDN1",
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"hgvs_c": "n.242A>G",
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"transcript": "NR_027427.1",
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"biotype": "pseudogene",
"feature": "NR_027427.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"biotype": "pseudogene",
"feature": "XR_007060756.1"
},
{
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"protein_coding": false,
"strand": false,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TATDN1",
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"biotype": "pseudogene",
"feature": "XR_007060757.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "TATDN1",
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"transcript": "ENST00000519776.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519776.5"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "TATDN1",
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"transcript": "ENST00000522310.5",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "TATDN1",
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"dbsnp": "rs146176613",
"frequency_reference_population": 0.000050362487,
"hom_count_reference_population": 0,
"allele_count_reference_population": 81,
"gnomad_exomes_af": 0.0000508191,
"gnomad_genomes_af": 0.0000459939,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05787655711174011,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1459999978542328,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0430769129308925,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001317889.1",
"gene_symbol": "TATDN1",
"hgnc_id": 24220,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser"
}
],
"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
}