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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: 6-43512457-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43512457&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43512457,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015388.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Tyr296Cys",
"transcript": "NM_015388.4",
"protein_id": "NP_056203.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 350,
"cds_start": 887,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372422.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015388.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Tyr296Cys",
"transcript": "ENST00000372422.7",
"protein_id": "ENSP00000361499.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 350,
"cds_start": 887,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015388.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372422.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Tyr329Cys",
"transcript": "ENST00000940674.1",
"protein_id": "ENSP00000610733.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 383,
"cds_start": 986,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940674.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.905A>G",
"hgvs_p": "p.Tyr302Cys",
"transcript": "ENST00000506469.5",
"protein_id": "ENSP00000425494.1",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 356,
"cds_start": 905,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506469.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Tyr300Cys",
"transcript": "ENST00000882376.1",
"protein_id": "ENSP00000552435.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 354,
"cds_start": 899,
"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": "ENST00000882376.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.866A>G",
"hgvs_p": "p.Tyr289Cys",
"transcript": "ENST00000882377.1",
"protein_id": "ENSP00000552436.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882377.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.Tyr277Cys",
"transcript": "ENST00000940668.1",
"protein_id": "ENSP00000610727.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 331,
"cds_start": 830,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940668.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.797A>G",
"hgvs_p": "p.Tyr266Cys",
"transcript": "ENST00000940670.1",
"protein_id": "ENSP00000610729.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 320,
"cds_start": 797,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940670.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000882379.1",
"protein_id": "ENSP00000552438.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 319,
"cds_start": 794,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882379.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Tyr258Cys",
"transcript": "ENST00000940672.1",
"protein_id": "ENSP00000610731.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 312,
"cds_start": 773,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940672.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.770A>G",
"hgvs_p": "p.Tyr257Cys",
"transcript": "ENST00000882378.1",
"protein_id": "ENSP00000552437.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 311,
"cds_start": 770,
"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": "ENST00000882378.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Tyr255Cys",
"transcript": "ENST00000952244.1",
"protein_id": "ENSP00000622303.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 309,
"cds_start": 764,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952244.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "ENST00000882380.1",
"protein_id": "ENSP00000552439.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 306,
"cds_start": 755,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882380.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Tyr245Cys",
"transcript": "ENST00000940671.1",
"protein_id": "ENSP00000610730.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 299,
"cds_start": 734,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940671.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Tyr242Cys",
"transcript": "ENST00000882375.1",
"protein_id": "ENSP00000552434.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 296,
"cds_start": 725,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882375.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Tyr227Cys",
"transcript": "ENST00000952245.1",
"protein_id": "ENSP00000622304.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 281,
"cds_start": 680,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952245.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.587A>G",
"hgvs_p": "p.Tyr196Cys",
"transcript": "ENST00000940673.1",
"protein_id": "ENSP00000610732.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 250,
"cds_start": 587,
"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": "ENST00000940673.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Tyr261Cys",
"transcript": "XM_047418608.1",
"protein_id": "XP_047274564.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 315,
"cds_start": 782,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418608.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Tyr262Cys",
"transcript": "ENST00000503972.5",
"protein_id": "ENSP00000421461.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 261,
"cds_start": 785,
"cds_end": null,
"cds_length": 787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503972.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.-225-528T>C",
"hgvs_p": null,
"transcript": "ENST00000646188.1",
"protein_id": "ENSP00000496001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.-97+2649T>C",
"hgvs_p": null,
"transcript": "ENST00000428025.6",
"protein_id": "ENSP00000395401.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428025.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.82-186A>G",
"hgvs_p": null,
"transcript": "ENST00000940669.1",
"protein_id": "ENSP00000610728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940669.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "YIPF3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490447.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
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"hgvs_c": "n.539A>G",
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"transcript": "ENST00000503147.1",
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"biotype": "retained_intron",
"feature": "ENST00000503147.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
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"hgvs_c": "n.*776A>G",
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"transcript": "ENST00000510102.5",
"protein_id": "ENSP00000427207.1",
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"cds_end": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510102.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
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"hgvs_c": "n.*787A>G",
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"transcript": "ENST00000490447.6",
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"feature": "ENST00000490447.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 9,
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"gene_symbol": "YIPF3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510102.5"
},
{
"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": "YIPF3",
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"transcript": "ENST00000460547.6",
"protein_id": "ENSP00000421053.1",
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"cds_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460547.6"
},
{
"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,
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"gene_symbol": "YIPF3",
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"hgvs_c": "n.*78A>G",
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"transcript": "ENST00000512713.5",
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000512713.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "n.*1A>G",
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"transcript": "ENST00000514627.5",
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"transcript_support_level": 3,
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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": "retained_intron",
"feature": "ENST00000514627.5"
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],
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"dbsnp": "rs201409507",
"frequency_reference_population": 0.00014994288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 242,
"gnomad_exomes_af": 0.000162806,
"gnomad_genomes_af": 0.0000263009,
"gnomad_exomes_ac": 238,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8133624196052551,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.755,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015388.4",
"gene_symbol": "YIPF3",
"hgnc_id": 21023,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Tyr296Cys"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000428025.6",
"gene_symbol": "POLR1C",
"hgnc_id": 20194,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-97+2649T>C",
"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
}