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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: 6-31952140-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31952140&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31952140,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_002904.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "NM_002904.6",
"protein_id": "NP_002895.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375429.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002904.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000375429.8",
"protein_id": "ENSP00000364578.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002904.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375429.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000948308.1",
"protein_id": "ENSP00000618367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000882598.1",
"protein_id": "ENSP00000552657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000882599.1",
"protein_id": "ENSP00000552658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000937367.1",
"protein_id": "ENSP00000607426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000937368.1",
"protein_id": "ENSP00000607427.1",
"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": "ENST00000937368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "XM_047419354.1",
"protein_id": "XP_047275310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "XM_047419355.1",
"protein_id": "XP_047275311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "XM_006715205.4",
"protein_id": "XP_006715268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715205.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "XM_047419356.1",
"protein_id": "XP_047275312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
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"cds_length": 1128,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419356.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "XM_011514913.4",
"protein_id": "XP_011513215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
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"cds_length": 978,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514913.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "NM_001710.6",
"protein_id": "NP_001701.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": null,
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"cds_length": 2295,
"cdna_start": null,
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"cdna_length": null,
"mane_select": "ENST00000425368.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001710.6"
},
{
"aa_ref": null,
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "CFB",
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"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000425368.7",
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"cdna_start": null,
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"mane_select": "NM_001710.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425368.7"
},
{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000456570.5",
"protein_id": "ENSP00000410815.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456570.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000477310.1",
"protein_id": "ENSP00000418996.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000477310.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000885733.1",
"protein_id": "ENSP00000555792.1",
"transcript_support_level": null,
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"aa_length": 813,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885733.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000885731.1",
"protein_id": "ENSP00000555790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885731.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000885715.1",
"protein_id": "ENSP00000555774.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000885713.1",
"protein_id": "ENSP00000555772.1",
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"feature": "ENST00000885713.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000885728.1",
"protein_id": "ENSP00000555787.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>C",
"hgvs_p": null,
"transcript": "ENST00000885716.1",
"protein_id": "ENSP00000555775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": null,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
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"biotype": "retained_intron",
"feature": "ENST00000698630.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"exon_count": 17,
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"gene_symbol": "CFB",
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"feature": "ENST00000698631.1"
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{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "CFB",
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"hgvs_c": "n.*71T>C",
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"feature": "ENST00000698632.1"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "CFB",
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"hgvs_c": "n.*90T>C",
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"transcript": "ENST00000698633.1",
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"biotype": "retained_intron",
"feature": "ENST00000698633.1"
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],
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"dbsnp": "rs522162",
"frequency_reference_population": 0.099928334,
"hom_count_reference_population": 8468,
"allele_count_reference_population": 150596,
"gnomad_exomes_af": 0.0979569,
"gnomad_genomes_af": 0.117475,
"gnomad_exomes_ac": 132714,
"gnomad_genomes_ac": 17882,
"gnomad_exomes_homalt": 7228,
"gnomad_genomes_homalt": 1240,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.114,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002904.6",
"gene_symbol": "NELFE",
"hgnc_id": 13974,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*161A>G",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001710.6",
"gene_symbol": "CFB",
"hgnc_id": 1037,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.*110T>C",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000456570.5",
"gene_symbol": "ENSG00000244255",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*110T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}