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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: 1-178851179-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=178851179&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 178851179,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004673.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "NM_004673.4",
"protein_id": "NP_004664.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234816.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004673.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000234816.7",
"protein_id": "ENSP00000234816.2",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004673.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234816.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000367629.1",
"protein_id": "ENSP00000356601.1",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367629.1"
},
{
"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "NM_152663.5",
"protein_id": "NP_689876.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367635.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152663.5"
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000367635.8",
"protein_id": "ENSP00000356607.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152663.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367635.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "NM_001376763.1",
"protein_id": "NP_001363692.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376763.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000853919.1",
"protein_id": "ENSP00000523978.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853919.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000853920.1",
"protein_id": "ENSP00000523979.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853920.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000853921.1",
"protein_id": "ENSP00000523980.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853921.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000853922.1",
"protein_id": "ENSP00000523981.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853922.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000963348.1",
"protein_id": "ENSP00000633407.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963348.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "ENST00000963349.1",
"protein_id": "ENSP00000633408.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963349.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "XM_047433711.1",
"protein_id": "XP_047289667.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 491,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433711.1"
},
{
"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000853433.1",
"protein_id": "ENSP00000523492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
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"cds_length": 1752,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853433.1"
},
{
"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.601+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000853430.1",
"protein_id": "ENSP00000523489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 581,
"cds_start": null,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853430.1"
},
{
"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": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000853431.1",
"protein_id": "ENSP00000523490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": null,
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"cds_length": 1737,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853431.1"
},
{
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"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "NM_001286247.2",
"protein_id": "NP_001273176.1",
"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": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286247.2"
},
{
"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000367634.7",
"protein_id": "ENSP00000356606.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
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"cds_length": 1674,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000367634.7"
},
{
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"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.517+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000853429.1",
"protein_id": "ENSP00000523488.1",
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"aa_start": 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": "ENST00000853429.1"
},
{
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"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.514+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000853432.1",
"protein_id": "ENSP00000523491.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853432.1"
},
{
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"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": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.607+17629C>T",
"hgvs_p": null,
"transcript": "NM_001400042.1",
"protein_id": "NP_001386971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400042.1"
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RALGPS2",
"gene_hgnc_id": 30279,
"hgvs_c": "c.502+17629C>T",
"hgvs_p": null,
"transcript": "ENST00000324778.5",
"protein_id": "ENSP00000313613.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324778.5"
},
{
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{
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{
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{
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{
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"biotype": "pseudogene",
"feature": "NR_174383.1"
},
{
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],
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"gene_symbol": "RALGPS2",
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"biotype": "pseudogene",
"feature": "NR_174384.1"
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],
"gene_symbol": "ANGPTL1",
"gene_hgnc_id": 489,
"dbsnp": "rs202182191",
"frequency_reference_population": 0.00010348311,
"hom_count_reference_population": 0,
"allele_count_reference_population": 167,
"gnomad_exomes_af": 0.000111515,
"gnomad_genomes_af": 0.0000262988,
"gnomad_exomes_ac": 163,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8203144073486328,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.529,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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_004673.4",
"gene_symbol": "ANGPTL1",
"hgnc_id": 489,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152663.5",
"gene_symbol": "RALGPS2",
"hgnc_id": 30279,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.607+17629C>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
}