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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: 10-97757703-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97757703&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97757703,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001385876.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Lys384Arg",
"transcript": "NM_001385875.1",
"protein_id": "NP_001372804.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 411,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684270.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385875.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Lys384Arg",
"transcript": "ENST00000684270.1",
"protein_id": "ENSP00000506975.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 411,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385875.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684270.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Lys384Arg",
"transcript": "ENST00000393677.8",
"protein_id": "ENSP00000377282.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 411,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393677.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Lys395Arg",
"transcript": "NM_001385876.1",
"protein_id": "NP_001372805.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 422,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385876.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Lys389Arg",
"transcript": "NM_001002261.4",
"protein_id": "NP_001002261.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 416,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002261.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Lys389Arg",
"transcript": "NM_001385871.1",
"protein_id": "NP_001372800.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 416,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385871.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Lys389Arg",
"transcript": "ENST00000423811.3",
"protein_id": "ENSP00000409594.2",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 416,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423811.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Lys389Arg",
"transcript": "ENST00000951157.1",
"protein_id": "ENSP00000621216.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 416,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951157.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Lys388Arg",
"transcript": "ENST00000951160.1",
"protein_id": "ENSP00000621219.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 415,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951160.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Lys384Arg",
"transcript": "NM_144588.7",
"protein_id": "NP_653189.3",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 411,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144588.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Lys383Arg",
"transcript": "NM_001385877.1",
"protein_id": "NP_001372806.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 410,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385877.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.Lys382Arg",
"transcript": "NM_001385878.1",
"protein_id": "NP_001372807.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 409,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385878.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.Lys382Arg",
"transcript": "NM_001385879.1",
"protein_id": "NP_001372808.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 409,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385879.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Lys381Arg",
"transcript": "ENST00000951159.1",
"protein_id": "ENSP00000621218.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 408,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951159.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Lys377Arg",
"transcript": "NM_001002262.4",
"protein_id": "NP_001002262.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 404,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002262.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Lys377Arg",
"transcript": "NM_001385880.1",
"protein_id": "NP_001372809.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 404,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385880.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Lys377Arg",
"transcript": "NM_001385881.1",
"protein_id": "NP_001372810.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 404,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385881.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Lys377Arg",
"transcript": "ENST00000359980.5",
"protein_id": "ENSP00000353069.3",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 404,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359980.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Lys377Arg",
"transcript": "ENST00000891775.1",
"protein_id": "ENSP00000561834.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 404,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891775.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Lys377Arg",
"transcript": "ENST00000930138.1",
"protein_id": "ENSP00000600197.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 404,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930138.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Lys376Arg",
"transcript": "ENST00000951156.1",
"protein_id": "ENSP00000621215.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 403,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951156.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1094A>G",
"hgvs_p": "p.Lys365Arg",
"transcript": "ENST00000930133.1",
"protein_id": "ENSP00000600192.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 392,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ZFYVE27",
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"hgvs_c": "n.1357A>G",
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"transcript": "NR_169808.1",
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"cds_end": null,
"cds_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169808.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 12,
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"gene_symbol": "ZFYVE27",
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"hgvs_c": "n.1386A>G",
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"transcript": "NR_169809.1",
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"biotype": "pseudogene",
"feature": "NR_169809.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ZFYVE27",
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"hgvs_c": "n.1457A>G",
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"transcript": "NR_169810.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169810.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
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"hgvs_c": "n.1304A>G",
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"transcript": "NR_169811.1",
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"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "n.*46A>G",
"hgvs_p": null,
"transcript": "XR_945594.3",
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"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": "XR_945594.3"
}
],
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"dbsnp": "rs1032496804",
"frequency_reference_population": 0.000011771207,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116288,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04976251721382141,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.0566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.731,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001385876.1",
"gene_symbol": "ZFYVE27",
"hgnc_id": 26559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Lys395Arg"
}
],
"clinvar_disease": "Spastic paraplegia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}