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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: 20-38535152-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38535152&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38535152,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020336.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His",
"transcript": "NM_020336.4",
"protein_id": "NP_065069.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1494,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262879.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020336.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His",
"transcript": "ENST00000262879.11",
"protein_id": "ENSP00000262879.6",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 1494,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020336.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262879.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His",
"transcript": "ENST00000397040.5",
"protein_id": "ENSP00000380233.1",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 1494,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397040.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771His",
"transcript": "ENST00000397042.7",
"protein_id": "ENSP00000380235.3",
"transcript_support_level": 1,
"aa_start": 771,
"aa_end": null,
"aa_length": 1491,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397042.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783His",
"transcript": "ENST00000882545.1",
"protein_id": "ENSP00000552604.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1503,
"cds_start": 2348,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882545.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His",
"transcript": "NM_001282917.2",
"protein_id": "NP_001269846.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1494,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282917.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771His",
"transcript": "NM_001282918.2",
"protein_id": "NP_001269847.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1491,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282918.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771His",
"transcript": "ENST00000882544.1",
"protein_id": "ENSP00000552603.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1490,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882544.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753His",
"transcript": "ENST00000882546.1",
"protein_id": "ENSP00000552605.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2258,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882546.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"transcript": "ENST00000938986.1",
"protein_id": "ENSP00000609045.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2192,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938986.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"transcript": "ENST00000938985.1",
"protein_id": "ENSP00000609044.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1450,
"cds_start": 2192,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938985.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771His",
"transcript": "ENST00000949347.1",
"protein_id": "ENSP00000619406.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1421,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949347.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His",
"transcript": "ENST00000938987.1",
"protein_id": "ENSP00000609046.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938987.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603His",
"transcript": "ENST00000438490.2",
"protein_id": "ENSP00000416646.1",
"transcript_support_level": 5,
"aa_start": 603,
"aa_end": null,
"aa_length": 1323,
"cds_start": 1808,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438490.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000632792.1",
"protein_id": "ENSP00000487816.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 865,
"cds_start": 434,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000632792.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2360G>A",
"hgvs_p": "p.Arg787His",
"transcript": "XM_005260462.4",
"protein_id": "XP_005260519.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1507,
"cds_start": 2360,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260462.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2360G>A",
"hgvs_p": "p.Arg787His",
"transcript": "XM_047440314.1",
"protein_id": "XP_047296270.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 1506,
"cds_start": 2360,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440314.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783His",
"transcript": "XM_047440315.1",
"protein_id": "XP_047296271.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1503,
"cds_start": 2348,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440315.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783His",
"transcript": "XM_017027966.3",
"protein_id": "XP_016883455.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1502,
"cds_start": 2348,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027966.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His",
"transcript": "XM_005260465.4",
"protein_id": "XP_005260522.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1495,
"cds_start": 2324,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260465.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2312G>A",
"hgvs_p": "p.Arg771His",
"transcript": "XM_017027967.3",
"protein_id": "XP_016883456.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1490,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027967.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Arg669His",
"transcript": "XM_017027968.3",
"protein_id": "XP_016883457.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1389,
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],
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"dbsnp": "rs758022116",
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"allele_count_reference_population": 4,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43636009097099304,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.634,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020336.4",
"gene_symbol": "RALGAPB",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775His"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}