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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: 15-66352898-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66352898&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66352898,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017858.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "NM_017858.3",
"protein_id": "NP_060328.3",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261881.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017858.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000261881.9",
"protein_id": "ENSP00000261881.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017858.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261881.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "NM_001398281.1",
"protein_id": "NP_001385210.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398281.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "NM_001398282.1",
"protein_id": "NP_001385211.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398282.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "NM_001398283.1",
"protein_id": "NP_001385212.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398283.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "NM_001398284.1",
"protein_id": "NP_001385213.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398284.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000851323.1",
"protein_id": "ENSP00000521382.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851323.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000851324.1",
"protein_id": "ENSP00000521383.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851324.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912702.1",
"protein_id": "ENSP00000582761.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912702.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912703.1",
"protein_id": "ENSP00000582762.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912703.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912704.1",
"protein_id": "ENSP00000582763.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912704.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912705.1",
"protein_id": "ENSP00000582764.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912705.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912706.1",
"protein_id": "ENSP00000582765.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912706.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912707.1",
"protein_id": "ENSP00000582766.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
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"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912707.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912708.1",
"protein_id": "ENSP00000582767.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912708.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912710.1",
"protein_id": "ENSP00000582769.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912710.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912711.1",
"protein_id": "ENSP00000582770.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912711.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000955702.1",
"protein_id": "ENSP00000625761.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 301,
"cds_start": 50,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955702.1"
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000955703.1",
"protein_id": "ENSP00000625762.1",
"transcript_support_level": null,
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"cds_start": 50,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955703.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000562124.5",
"protein_id": "ENSP00000457406.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 293,
"cds_start": 50,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562124.5"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000912709.1",
"protein_id": "ENSP00000582768.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 187,
"cds_start": 50,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912709.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIPIN",
"gene_hgnc_id": 30750,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg",
"transcript": "ENST00000568216.5",
"protein_id": "ENSP00000457172.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 140,
"cds_start": 50,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568216.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
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},
{
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],
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},
{
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"biotype": "protein_coding",
"feature": "XM_024449971.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "TIPIN",
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"transcript": "NM_001289986.2",
"protein_id": "NP_001276915.1",
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"biotype": "protein_coding",
"feature": "NM_001289986.2"
},
{
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"feature": "NM_001398285.1"
},
{
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{
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"biotype": "protein_coding",
"feature": "NM_001398287.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TIPIN",
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"hgvs_c": "n.50A>G",
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"transcript": "ENST00000566524.5",
"protein_id": "ENSP00000455656.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566524.5"
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],
"gene_symbol": "TIPIN",
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"dbsnp": "rs1413244752",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06376615166664124,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.631,
"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": -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_017858.3",
"gene_symbol": "TIPIN",
"hgnc_id": 30750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.50A>G",
"hgvs_p": "p.His17Arg"
}
],
"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
}