← Back to variant description
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: 15-90763016-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90763016&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90763016,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_000057.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "NM_000057.4",
"protein_id": "NP_000048.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000057.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000355112.8",
"protein_id": "ENSP00000347232.3",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355112.8"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000560509.5",
"protein_id": "ENSP00000454158.1",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1933,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*857C>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": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*857C>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000936452.1",
"protein_id": "ENSP00000606511.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1448,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936452.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000936450.1",
"protein_id": "ENSP00000606509.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1435,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936450.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "NM_001287246.2",
"protein_id": "NP_001274175.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287246.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000680772.1",
"protein_id": "ENSP00000506117.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680772.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000936448.1",
"protein_id": "ENSP00000606507.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936448.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000936451.1",
"protein_id": "ENSP00000606510.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936451.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000936455.1",
"protein_id": "ENSP00000606514.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936455.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1930C>T",
"hgvs_p": "p.Gln644*",
"transcript": "ENST00000936446.1",
"protein_id": "ENSP00000606505.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1416,
"cds_start": 1930,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936446.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000648453.1",
"protein_id": "ENSP00000497646.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1386,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648453.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000936454.1",
"protein_id": "ENSP00000606513.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936454.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000891949.1",
"protein_id": "ENSP00000562008.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1379,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891949.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000681142.1",
"protein_id": "ENSP00000506682.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1372,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681142.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "NM_001287247.2",
"protein_id": "NP_001274176.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1933,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287247.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.1345C>T",
"hgvs_p": "p.Gln449*",
"transcript": "ENST00000936445.1",
"protein_id": "ENSP00000606504.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 1221,
"cds_start": 1345,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936445.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.1276C>T",
"hgvs_p": "p.Gln426*",
"transcript": "ENST00000936447.1",
"protein_id": "ENSP00000606506.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1276,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936447.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Gln270*",
"transcript": "NM_001287248.2",
"protein_id": "NP_001274177.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1042,
"cds_start": 808,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287248.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Gln207*",
"transcript": "XM_047432934.1",
"protein_id": "XP_047288890.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 979,
"cds_start": 619,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432934.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "XM_011521882.4",
"protein_id": "XP_011520184.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 907,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.-30C>T",
"hgvs_p": null,
"transcript": "XM_006720632.3",
"protein_id": "XP_006720695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": null,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720632.3"
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1087+8078C>T",
"hgvs_p": null,
"transcript": "ENST00000936453.1",
"protein_id": "ENSP00000606512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": null,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936453.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1087+8078C>T",
"hgvs_p": null,
"transcript": "ENST00000936449.1",
"protein_id": "ENSP00000606508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.110C>T",
"hgvs_p": null,
"transcript": "ENST00000559426.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000559426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.78C>T",
"hgvs_p": null,
"transcript": "ENST00000560136.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000560136.5"
}
],
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"dbsnp": "rs373525781",
"frequency_reference_population": 0.00009855466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 159,
"gnomad_exomes_af": 0.000100601,
"gnomad_genomes_af": 0.0000788975,
"gnomad_exomes_ac": 147,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.667,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000057.4",
"gene_symbol": "BLM",
"hgnc_id": 1058,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*"
}
],
"clinvar_disease": "BLM-related disorder,Bloom syndrome,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9",
"phenotype_combined": "Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided|BLM-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}