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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: 15-90760806-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90760806&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90760806,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000057.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "NM_000057.4",
"protein_id": "NP_000048.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "ENST00000355112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000057.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000355112.8",
"protein_id": "ENSP00000347232.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "NM_000057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355112.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000560509.5",
"protein_id": "ENSP00000454158.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560509.5"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*357G>T",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"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": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*357G>T",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"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": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000936452.1",
"protein_id": "ENSP00000606511.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1448,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936452.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000936450.1",
"protein_id": "ENSP00000606509.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1435,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936450.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "NM_001287246.2",
"protein_id": "NP_001274175.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287246.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000680772.1",
"protein_id": "ENSP00000506117.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680772.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000936448.1",
"protein_id": "ENSP00000606507.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936448.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000936451.1",
"protein_id": "ENSP00000606510.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936451.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000936455.1",
"protein_id": "ENSP00000606514.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936455.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1430G>T",
"hgvs_p": "p.Gly477Val",
"transcript": "ENST00000936446.1",
"protein_id": "ENSP00000606505.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 1416,
"cds_start": 1430,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936446.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000648453.1",
"protein_id": "ENSP00000497646.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1386,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648453.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000936454.1",
"protein_id": "ENSP00000606513.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936454.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000891949.1",
"protein_id": "ENSP00000562008.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1379,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891949.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000681142.1",
"protein_id": "ENSP00000506682.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1372,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681142.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "NM_001287247.2",
"protein_id": "NP_001274176.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1433,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287247.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Gly103Val",
"transcript": "NM_001287248.2",
"protein_id": "NP_001274177.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1042,
"cds_start": 308,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287248.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Gly40Val",
"transcript": "XM_047432934.1",
"protein_id": "XP_047288890.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 979,
"cds_start": 119,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432934.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "XM_011521882.4",
"protein_id": "XP_011520184.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 907,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521882.4"
},
{
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1088-243G>T",
"hgvs_p": null,
"transcript": "ENST00000936445.1",
"protein_id": "ENSP00000606504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": null,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
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{
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],
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},
{
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],
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},
{
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"intron_variant"
],
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"biotype": "protein_coding",
"feature": "ENST00000936449.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "BLM",
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"hgvs_c": "n.561G>T",
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"transcript": "ENST00000558599.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558599.1"
}
],
"gene_symbol": "BLM",
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"dbsnp": "rs759810567",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11830168962478638,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.1081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.155,
"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_000057.4",
"gene_symbol": "BLM",
"hgnc_id": 1058,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val"
}
],
"clinvar_disease": "Bloom syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Bloom syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}