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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: 1-75792299-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75792299&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75792299,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004582.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Pro233Arg",
"transcript": "NM_004582.4",
"protein_id": "NP_004573.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 331,
"cds_start": 698,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319942.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004582.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Pro233Arg",
"transcript": "ENST00000319942.8",
"protein_id": "ENSP00000317473.3",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 331,
"cds_start": 698,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004582.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319942.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Pro235Arg",
"transcript": "ENST00000935155.1",
"protein_id": "ENSP00000605214.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 333,
"cds_start": 704,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935155.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Pro232Arg",
"transcript": "ENST00000935145.1",
"protein_id": "ENSP00000605204.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 330,
"cds_start": 695,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935145.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Pro229Arg",
"transcript": "ENST00000935144.1",
"protein_id": "ENSP00000605203.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 327,
"cds_start": 686,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935144.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.626C>G",
"hgvs_p": "p.Pro209Arg",
"transcript": "ENST00000935156.1",
"protein_id": "ENSP00000605215.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 307,
"cds_start": 626,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935156.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Pro197Arg",
"transcript": "ENST00000872421.1",
"protein_id": "ENSP00000542480.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 295,
"cds_start": 590,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872421.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Pro233Arg",
"transcript": "ENST00000935149.1",
"protein_id": "ENSP00000605208.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 281,
"cds_start": 698,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935149.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.533C>G",
"hgvs_p": "p.Pro178Arg",
"transcript": "ENST00000935154.1",
"protein_id": "ENSP00000605213.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 276,
"cds_start": 533,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935154.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.518C>G",
"hgvs_p": "p.Pro173Arg",
"transcript": "ENST00000964019.1",
"protein_id": "ENSP00000634078.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 271,
"cds_start": 518,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964019.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.500C>G",
"hgvs_p": "p.Pro167Arg",
"transcript": "ENST00000872422.1",
"protein_id": "ENSP00000542481.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 265,
"cds_start": 500,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872422.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Pro143Arg",
"transcript": "ENST00000935150.1",
"protein_id": "ENSP00000605209.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 241,
"cds_start": 428,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935150.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000935148.1",
"protein_id": "ENSP00000605207.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 229,
"cds_start": 392,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935148.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.579+728C>G",
"hgvs_p": null,
"transcript": "ENST00000935146.1",
"protein_id": "ENSP00000605205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935146.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.381+728C>G",
"hgvs_p": null,
"transcript": "ENST00000935147.1",
"protein_id": "ENSP00000605206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935147.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.310-1785C>G",
"hgvs_p": null,
"transcript": "ENST00000935153.1",
"protein_id": "ENSP00000605212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935153.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.310-2211C>G",
"hgvs_p": null,
"transcript": "ENST00000935157.1",
"protein_id": "ENSP00000605216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935157.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.112-1785C>G",
"hgvs_p": null,
"transcript": "ENST00000935151.1",
"protein_id": "ENSP00000605210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935151.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.112-2211C>G",
"hgvs_p": null,
"transcript": "ENST00000935152.1",
"protein_id": "ENSP00000605211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.1686C>G",
"hgvs_p": null,
"transcript": "ENST00000471759.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471759.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.958C>G",
"hgvs_p": null,
"transcript": "ENST00000491266.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491266.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.3382C>G",
"hgvs_p": null,
"transcript": "ENST00000496055.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496055.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"biotype": "pseudogene",
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{
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"protein_coding": false,
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"downstream_gene_variant"
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"gene_symbol": "RABGGTB",
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"biotype": "pseudogene",
"feature": "ENST00000470201.5"
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{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
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"exon_count": 7,
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"gene_symbol": "RABGGTB",
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"hgvs_c": "n.*45C>G",
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"transcript": "ENST00000485459.5",
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"biotype": "pseudogene",
"feature": "ENST00000485459.5"
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],
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"dbsnp": "rs138598204",
"frequency_reference_population": 0.0000013685489,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136855,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8856318593025208,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.526,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9898,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004582.4",
"gene_symbol": "RABGGTB",
"hgnc_id": 9796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Pro233Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}