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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: 15-41517684-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41517684&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41517684,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015540.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.4040G>A",
"hgvs_p": "p.Arg1347Gln",
"transcript": "NM_015540.4",
"protein_id": "NP_056355.2",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1393,
"cds_start": 4040,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "ENST00000304330.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015540.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.4040G>A",
"hgvs_p": "p.Arg1347Gln",
"transcript": "ENST00000304330.9",
"protein_id": "ENSP00000306123.4",
"transcript_support_level": 1,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1393,
"cds_start": 4040,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "NM_015540.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304330.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.*1341G>A",
"hgvs_p": null,
"transcript": "ENST00000562303.5",
"protein_id": "ENSP00000455363.1",
"transcript_support_level": 1,
"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": 5897,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562303.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.1204G>A",
"hgvs_p": null,
"transcript": "ENST00000565167.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.*1341G>A",
"hgvs_p": null,
"transcript": "ENST00000562303.5",
"protein_id": "ENSP00000455363.1",
"transcript_support_level": 1,
"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": 5897,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562303.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.4040G>A",
"hgvs_p": "p.Arg1347Gln",
"transcript": "ENST00000867493.1",
"protein_id": "ENSP00000537552.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1393,
"cds_start": 4040,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4323,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867493.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.4040G>A",
"hgvs_p": "p.Arg1347Gln",
"transcript": "ENST00000912254.1",
"protein_id": "ENSP00000582313.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1393,
"cds_start": 4040,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4260,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912254.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.4040G>A",
"hgvs_p": "p.Arg1347Gln",
"transcript": "ENST00000912256.1",
"protein_id": "ENSP00000582315.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1393,
"cds_start": 4040,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4362,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912256.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.4019G>A",
"hgvs_p": "p.Arg1340Gln",
"transcript": "ENST00000912252.1",
"protein_id": "ENSP00000582311.1",
"transcript_support_level": null,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1386,
"cds_start": 4019,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 4131,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912252.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3974G>A",
"hgvs_p": "p.Arg1325Gln",
"transcript": "ENST00000867487.1",
"protein_id": "ENSP00000537546.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3974,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867487.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3974G>A",
"hgvs_p": "p.Arg1325Gln",
"transcript": "ENST00000912253.1",
"protein_id": "ENSP00000582312.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3974,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912253.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3941G>A",
"hgvs_p": "p.Arg1314Gln",
"transcript": "ENST00000867488.1",
"protein_id": "ENSP00000537547.1",
"transcript_support_level": null,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3941,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 4068,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867488.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3938G>A",
"hgvs_p": "p.Arg1313Gln",
"transcript": "ENST00000867491.1",
"protein_id": "ENSP00000537550.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3938,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 4062,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867491.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3887G>A",
"hgvs_p": "p.Arg1296Gln",
"transcript": "ENST00000912250.1",
"protein_id": "ENSP00000582309.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3887,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 4023,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912250.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3881G>A",
"hgvs_p": "p.Arg1294Gln",
"transcript": "ENST00000867490.1",
"protein_id": "ENSP00000537549.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3881,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867490.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3860G>A",
"hgvs_p": "p.Arg1287Gln",
"transcript": "ENST00000867494.1",
"protein_id": "ENSP00000537553.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3975,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867494.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3848G>A",
"hgvs_p": "p.Arg1283Gln",
"transcript": "ENST00000867492.1",
"protein_id": "ENSP00000537551.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3848,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 3963,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867492.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3701G>A",
"hgvs_p": "p.Arg1234Gln",
"transcript": "ENST00000912251.1",
"protein_id": "ENSP00000582310.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912251.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183Gln",
"transcript": "ENST00000867489.1",
"protein_id": "ENSP00000537548.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3548,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3672,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867489.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3521G>A",
"hgvs_p": "p.Arg1174Gln",
"transcript": "ENST00000867495.1",
"protein_id": "ENSP00000537554.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3521,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867495.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3283G>A",
"hgvs_p": "p.Gly1095Ser",
"transcript": "ENST00000561603.5",
"protein_id": "ENSP00000456207.1",
"transcript_support_level": 5,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561603.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894Gln",
"transcript": "ENST00000912255.1",
"protein_id": "ENSP00000582314.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 17,
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"hgvs_p": "p.Arg721Gln",
"transcript": "ENST00000970347.1",
"protein_id": "ENSP00000640406.1",
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"aa_start": 721,
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"biotype": "protein_coding",
"feature": "ENST00000970347.1"
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "RPAP1",
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"hgvs_p": "p.Arg1347Gln",
"transcript": "XM_005254297.2",
"protein_id": "XP_005254354.1",
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"aa_start": 1347,
"aa_end": null,
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"cds_start": 4040,
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"cdna_end": null,
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"biotype": "protein_coding",
"feature": "XM_005254297.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 24,
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"gene_symbol": "RPAP1",
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"hgvs_c": "c.3860G>A",
"hgvs_p": "p.Arg1287Gln",
"transcript": "XM_047432374.1",
"protein_id": "XP_047288330.1",
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"aa_start": 1287,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3975,
"cdna_end": null,
"cdna_length": 4483,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432374.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3860G>A",
"hgvs_p": "p.Arg1287Gln",
"transcript": "XM_047432375.1",
"protein_id": "XP_047288331.1",
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"aa_start": 1287,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 4281,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432375.1"
}
],
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"dbsnp": "rs138155923",
"frequency_reference_population": 0.000012405517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000012329,
"gnomad_genomes_af": 0.0000131396,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07345810532569885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0817,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.214,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015540.4",
"gene_symbol": "RPAP1",
"hgnc_id": 24567,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4040G>A",
"hgvs_p": "p.Arg1347Gln"
}
],
"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
}