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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: 9-127108286-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127108286&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127108286,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012098.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ANGPTL2",
"gene_hgnc_id": 490,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "NM_012098.3",
"protein_id": "NP_036230.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 493,
"cds_start": 446,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373425.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012098.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "ANGPTL2",
"gene_hgnc_id": 490,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "ENST00000373425.8",
"protein_id": "ENSP00000362524.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 493,
"cds_start": 446,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012098.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373425.8"
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_014636.3",
"protein_id": "NP_055451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259351.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014636.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "ENST00000259351.10",
"protein_id": "ENSP00000259351.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014636.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259351.10"
},
{
"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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "ENST00000373434.5",
"protein_id": "ENSP00000362533.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373434.5"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "ENST00000373436.5",
"protein_id": "ENSP00000362535.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373436.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ANGPTL2",
"gene_hgnc_id": 490,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "ENST00000903364.1",
"protein_id": "ENSP00000573423.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 493,
"cds_start": 446,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903364.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ANGPTL2",
"gene_hgnc_id": 490,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "ENST00000903365.1",
"protein_id": "ENSP00000573424.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 493,
"cds_start": 446,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903365.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL2",
"gene_hgnc_id": 490,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "XM_006717030.5",
"protein_id": "XP_006717093.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 274,
"cds_start": 446,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717030.5"
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001322325.2",
"protein_id": "NP_001309254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": null,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322325.2"
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001322321.2",
"protein_id": "NP_001309250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": null,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322321.2"
},
{
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "ENST00000903176.1",
"protein_id": "ENSP00000573235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903176.1"
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001322322.2",
"protein_id": "NP_001309251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": null,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322322.2"
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001366400.1",
"protein_id": "NP_001353329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "NM_001366400.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001190729.2",
"protein_id": "NP_001177658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190729.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001322320.2",
"protein_id": "NP_001309249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"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": "NM_001322320.2"
},
{
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "ENST00000424082.6",
"protein_id": "ENSP00000415630.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424082.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.469+38930C>T",
"hgvs_p": null,
"transcript": "ENST00000921398.1",
"protein_id": "ENSP00000591457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": 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": "ENST00000921398.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001190728.1",
"protein_id": "NP_001177657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190728.1"
},
{
"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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001366401.1",
"protein_id": "NP_001353330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366401.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.610+38930C>T",
"hgvs_p": null,
"transcript": "NM_001322324.2",
"protein_id": "NP_001309253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322324.2"
},
{
"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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RALGPS1",
"gene_hgnc_id": 16851,
"hgvs_c": "c.520+38930C>T",
"hgvs_p": null,
"transcript": "NM_001322323.2",
"protein_id": "NP_001309252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322323.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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{
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],
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{
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{
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{
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],
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{
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],
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"transcript": "XM_047424153.1",
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},
{
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"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "ANGPTL2",
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"transcript": "ENST00000470194.1",
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"biotype": "pseudogene",
"feature": "ENST00000470194.1"
},
{
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"strand": true,
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],
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"gene_symbol": "ANGPTL2",
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"transcript": "ENST00000491991.1",
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"biotype": "pseudogene",
"feature": "ENST00000491991.1"
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],
"gene_symbol": "ANGPTL2",
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"dbsnp": "rs752053998",
"frequency_reference_population": 0.000012392603,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000012997,
"gnomad_genomes_af": 0.00000657947,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8104128837585449,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": 0.6338,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.879,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012098.3",
"gene_symbol": "ANGPTL2",
"hgnc_id": 490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln"
},
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001322325.2",
"gene_symbol": "RALGPS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.610+38930C>T",
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}
],
"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
}