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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: X-101407780-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101407780&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101407780,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000218516.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "NM_000169.3",
"protein_id": "NP_000160.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 429,
"cds_start": 124,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": "ENST00000218516.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "ENST00000218516.4",
"protein_id": "ENSP00000218516.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 429,
"cds_start": 124,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": "NM_000169.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL36A-HNRNPH2",
"gene_hgnc_id": 48349,
"hgvs_c": "c.301-4156T>G",
"hgvs_p": null,
"transcript": "ENST00000409170.3",
"protein_id": "ENSP00000386655.4",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "NM_001406747.1",
"protein_id": "NP_001393676.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 470,
"cds_start": 124,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "ENST00000649178.1",
"protein_id": "ENSP00000498186.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 470,
"cds_start": 124,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 133,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "ENST00000710365.1",
"protein_id": "ENSP00000518234.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 454,
"cds_start": 124,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "ENST00000676156.1",
"protein_id": "ENSP00000501730.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 417,
"cds_start": 124,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "ENST00000675592.1",
"protein_id": "ENSP00000502239.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 363,
"cds_start": 124,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "NM_001406748.1",
"protein_id": "NP_001393677.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 362,
"cds_start": 124,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "ENST00000674634.2",
"protein_id": "ENSP00000502629.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 362,
"cds_start": 124,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu",
"transcript": "NM_001406749.1",
"protein_id": "NP_001393678.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 252,
"cds_start": 124,
"cds_end": null,
"cds_length": 759,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.43A>C",
"hgvs_p": null,
"transcript": "ENST00000466414.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.185A>C",
"hgvs_p": null,
"transcript": "ENST00000468823.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.122A>C",
"hgvs_p": null,
"transcript": "ENST00000479445.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000480513.6",
"protein_id": "ENSP00000497055.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000486121.7",
"protein_id": "ENSP00000501124.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000493905.6",
"protein_id": "ENSP00000476935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000674127.2",
"protein_id": "ENSP00000501044.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.211A>C",
"hgvs_p": null,
"transcript": "ENST00000674142.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000675799.1",
"protein_id": "ENSP00000502661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.185A>C",
"hgvs_p": null,
"transcript": "ENST00000675968.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.124A>C",
"hgvs_p": null,
"transcript": "ENST00000676372.1",
"protein_id": "ENSP00000502805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.146A>C",
"hgvs_p": null,
"transcript": "NR_164783.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 6,
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"gene_symbol": "GLA",
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"transcript": "NR_176252.1",
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 8,
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"gene_symbol": "GLA",
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"hgvs_c": "n.146A>C",
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"transcript": "NR_176253.1",
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"cds_start": -4,
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"cdna_length": 1433,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "RPL36A-HNRNPH2",
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"hgvs_c": "c.301-4156T>G",
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"transcript": "NM_001199973.2",
"protein_id": "NP_001186902.2",
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"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
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"cds_length": 357,
"cdna_start": null,
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"cdna_length": 2531,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "RPL36A-HNRNPH2",
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"hgvs_c": "c.178-4156T>G",
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"transcript": "NM_001199974.2",
"protein_id": "NP_001186903.2",
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"cdna_length": 2408,
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "RPL36A-HNRNPH2",
"gene_hgnc_id": 48349,
"hgvs_c": "c.178-4156T>G",
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"transcript": "ENST00000409338.5",
"protein_id": "ENSP00000386974.2",
"transcript_support_level": 4,
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"cdna_length": 572,
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"feature": null
}
],
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"dbsnp": "rs797044613",
"frequency_reference_population": 0.000004133287,
"hom_count_reference_population": 3,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000364434,
"gnomad_genomes_af": 0.00000892069,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9460382461547852,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.925,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.75,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.788,
"phylop100way_prediction": "Pathogenic",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3_Strong,PP5_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 4,
"pathogenic_score": 17,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong",
"BS2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000218516.4",
"gene_symbol": "GLA",
"hgnc_id": 4296,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.124A>C",
"hgvs_p": "p.Met42Leu"
},
{
"score": 8,
"benign_score": 4,
"pathogenic_score": 12,
"criteria": [
"PP3_Strong",
"PP5_Very_Strong",
"BS2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000409170.3",
"gene_symbol": "RPL36A-HNRNPH2",
"hgnc_id": 48349,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.301-4156T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Fabry disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:4",
"phenotype_combined": "not provided|Fabry disease|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}