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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: 2-85553045-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85553045&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85553045,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000233838.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1181T>G",
"hgvs_p": "p.Leu394Arg",
"transcript": "NM_000821.7",
"protein_id": "NP_000812.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 758,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 7556,
"mane_select": "ENST00000233838.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1181T>G",
"hgvs_p": "p.Leu394Arg",
"transcript": "ENST00000233838.9",
"protein_id": "ENSP00000233838.3",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 758,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 7556,
"mane_select": "NM_000821.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1112T>G",
"hgvs_p": "p.Leu371Arg",
"transcript": "ENST00000689276.1",
"protein_id": "ENSP00000510012.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 735,
"cds_start": 1112,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1010T>G",
"hgvs_p": "p.Leu337Arg",
"transcript": "NM_001142269.4",
"protein_id": "NP_001135741.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 701,
"cds_start": 1010,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1010T>G",
"hgvs_p": "p.Leu337Arg",
"transcript": "ENST00000430215.7",
"protein_id": "ENSP00000408045.3",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 701,
"cds_start": 1010,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.506T>G",
"hgvs_p": "p.Leu169Arg",
"transcript": "ENST00000690595.1",
"protein_id": "ENSP00000508979.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 533,
"cds_start": 506,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.497T>G",
"hgvs_p": "p.Leu166Arg",
"transcript": "ENST00000693287.1",
"protein_id": "ENSP00000510264.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 530,
"cds_start": 497,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.494T>G",
"hgvs_p": "p.Leu165Arg",
"transcript": "ENST00000693681.1",
"protein_id": "ENSP00000510789.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 529,
"cds_start": 494,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1181T>G",
"hgvs_p": "p.Leu394Arg",
"transcript": "XM_005264259.6",
"protein_id": "XP_005264316.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 756,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1010T>G",
"hgvs_p": "p.Leu337Arg",
"transcript": "XM_017003803.3",
"protein_id": "XP_016859292.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 699,
"cds_start": 1010,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.359T>G",
"hgvs_p": "p.Leu120Arg",
"transcript": "XM_047443919.1",
"protein_id": "XP_047299875.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 484,
"cds_start": 359,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 6709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.1181T>G",
"hgvs_p": "p.Leu394Arg",
"transcript": "XM_047443920.1",
"protein_id": "XP_047299876.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 431,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1522,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.5225T>G",
"hgvs_p": null,
"transcript": "ENST00000473665.2",
"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": 7605,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.3632T>G",
"hgvs_p": null,
"transcript": "ENST00000482662.2",
"protein_id": null,
"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": 6007,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1584T>G",
"hgvs_p": null,
"transcript": "ENST00000685865.1",
"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": 3902,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1284T>G",
"hgvs_p": null,
"transcript": "ENST00000687250.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3059,
"mane_select": null,
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"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1533T>G",
"hgvs_p": null,
"transcript": "ENST00000687995.1",
"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": 4471,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*774T>G",
"hgvs_p": null,
"transcript": "ENST00000688205.1",
"protein_id": "ENSP00000509673.1",
"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": 3524,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1420T>G",
"hgvs_p": null,
"transcript": "ENST00000688788.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3361,
"mane_select": null,
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"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": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1181T>G",
"hgvs_p": null,
"transcript": "ENST00000689576.1",
"protein_id": "ENSP00000508712.1",
"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": 3269,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.*837T>G",
"hgvs_p": null,
"transcript": "ENST00000690108.1",
"protein_id": "ENSP00000510617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.902T>G",
"hgvs_p": null,
"transcript": "ENST00000690468.1",
"protein_id": "ENSP00000509078.1",
"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": 2763,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "n.1010T>G",
"hgvs_p": null,
"transcript": "ENST00000691348.1",
"protein_id": "ENSP00000509369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": 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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},
{
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],
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"gene_symbol": "GGCX",
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"hgvs_c": "n.179-5041T>G",
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}
],
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"dbsnp": "rs121909675",
"frequency_reference_population": 0.0000037172924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342031,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9895472526550293,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.934,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.597,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PP3_Strong",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000233838.9",
"gene_symbol": "GGCX",
"hgnc_id": 4247,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1181T>G",
"hgvs_p": "p.Leu394Arg"
}
],
"clinvar_disease": " combined deficiency of, type 1,Vitamin K-dependent clotting factors",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Vitamin K-dependent clotting factors, combined deficiency of, type 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}