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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: 15-41520573-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41520573&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41520573,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015540.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3613A>T",
"hgvs_p": "p.Thr1205Ser",
"transcript": "NM_015540.4",
"protein_id": "NP_056355.2",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "ENST00000304330.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015540.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3613A>T",
"hgvs_p": "p.Thr1205Ser",
"transcript": "ENST00000304330.9",
"protein_id": "ENSP00000306123.4",
"transcript_support_level": 1,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3728,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.3613A>T",
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "n.629A>T",
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3613A>T",
"hgvs_p": "p.Thr1205Ser",
"transcript": "ENST00000867493.1",
"protein_id": "ENSP00000537552.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3896,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867493.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3613A>T",
"hgvs_p": "p.Thr1205Ser",
"transcript": "ENST00000912254.1",
"protein_id": "ENSP00000582313.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3833,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912254.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3613A>T",
"hgvs_p": "p.Thr1205Ser",
"transcript": "ENST00000912256.1",
"protein_id": "ENSP00000582315.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3935,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912256.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3592A>T",
"hgvs_p": "p.Thr1198Ser",
"transcript": "ENST00000912252.1",
"protein_id": "ENSP00000582311.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 3704,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912252.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3547A>T",
"hgvs_p": "p.Thr1183Ser",
"transcript": "ENST00000867487.1",
"protein_id": "ENSP00000537546.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3547,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867487.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3547A>T",
"hgvs_p": "p.Thr1183Ser",
"transcript": "ENST00000912253.1",
"protein_id": "ENSP00000582312.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3547,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3765,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912253.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3514A>T",
"hgvs_p": "p.Thr1172Ser",
"transcript": "ENST00000867488.1",
"protein_id": "ENSP00000537547.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3514,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867488.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3511A>T",
"hgvs_p": "p.Thr1171Ser",
"transcript": "ENST00000867491.1",
"protein_id": "ENSP00000537550.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3511,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867491.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3460A>T",
"hgvs_p": "p.Thr1154Ser",
"transcript": "ENST00000912250.1",
"protein_id": "ENSP00000582309.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912250.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3454A>T",
"hgvs_p": "p.Thr1152Ser",
"transcript": "ENST00000867490.1",
"protein_id": "ENSP00000537549.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3454,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867490.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3433A>T",
"hgvs_p": "p.Thr1145Ser",
"transcript": "ENST00000867494.1",
"protein_id": "ENSP00000537553.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3433,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867494.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3421A>T",
"hgvs_p": "p.Thr1141Ser",
"transcript": "ENST00000867492.1",
"protein_id": "ENSP00000537551.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 3536,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867492.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3274A>T",
"hgvs_p": "p.Thr1092Ser",
"transcript": "ENST00000912251.1",
"protein_id": "ENSP00000582310.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912251.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3121A>T",
"hgvs_p": "p.Thr1041Ser",
"transcript": "ENST00000867489.1",
"protein_id": "ENSP00000537548.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867489.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3094A>T",
"hgvs_p": "p.Thr1032Ser",
"transcript": "ENST00000867495.1",
"protein_id": "ENSP00000537554.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867495.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3613A>T",
"hgvs_p": "p.Thr1205Ser",
"transcript": "XM_005254297.2",
"protein_id": "XP_005254354.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3613,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254297.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3433A>T",
"hgvs_p": "p.Thr1145Ser",
"transcript": "XM_047432374.1",
"protein_id": "XP_047288330.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3433,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432374.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"hgvs_c": "c.3433A>T",
"hgvs_p": "p.Thr1145Ser",
"transcript": "XM_047432375.1",
"protein_id": "XP_047288331.1",
"transcript_support_level": null,
"aa_start": 1145,
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"feature": "XM_047432375.1"
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{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"transcript": "ENST00000561603.5",
"protein_id": "ENSP00000456207.1",
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"feature": "ENST00000561603.5"
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{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 20,
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"gene_symbol": "RPAP1",
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"hgvs_c": "c.2437-2391A>T",
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"transcript": "ENST00000912255.1",
"protein_id": "ENSP00000582314.1",
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"aa_end": null,
"aa_length": 940,
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"cds_end": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912255.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 17,
"intron_rank": 14,
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"gene_symbol": "RPAP1",
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"hgvs_c": "c.1918-2391A>T",
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"transcript": "ENST00000970347.1",
"protein_id": "ENSP00000640406.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970347.1"
}
],
"gene_symbol": "RPAP1",
"gene_hgnc_id": 24567,
"dbsnp": "rs146768299",
"frequency_reference_population": 0.000058241192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.00005746,
"gnomad_genomes_af": 0.0000657497,
"gnomad_exomes_ac": 84,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1061515212059021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.419,
"phylop100way_prediction": "Benign",
"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": 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.3613A>T",
"hgvs_p": "p.Thr1205Ser"
}
],
"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
}