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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: 1-89009043-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=89009043&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 89009043,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018284.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1563T>A",
"hgvs_p": "p.Ser521Arg",
"transcript": "NM_018284.3",
"protein_id": "NP_060754.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 595,
"cds_start": 1563,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": "ENST00000370481.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018284.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1563T>A",
"hgvs_p": "p.Ser521Arg",
"transcript": "ENST00000370481.9",
"protein_id": "ENSP00000359512.4",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 595,
"cds_start": 1563,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": "NM_018284.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370481.9"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*196T>A",
"hgvs_p": null,
"transcript": "ENST00000489444.6",
"protein_id": "ENSP00000437168.2",
"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": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489444.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1373T>A",
"hgvs_p": null,
"transcript": "ENST00000493594.6",
"protein_id": "ENSP00000456449.1",
"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": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493594.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*196T>A",
"hgvs_p": null,
"transcript": "ENST00000489444.6",
"protein_id": "ENSP00000437168.2",
"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": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489444.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1373T>A",
"hgvs_p": null,
"transcript": "ENST00000493594.6",
"protein_id": "ENSP00000456449.1",
"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": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493594.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1563T>A",
"hgvs_p": "p.Ser521Arg",
"transcript": "ENST00000879051.1",
"protein_id": "ENSP00000549110.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 595,
"cds_start": 1563,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879051.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1482T>A",
"hgvs_p": "p.Ser494Arg",
"transcript": "NM_001436844.1",
"protein_id": "NP_001423773.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 568,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436844.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1482T>A",
"hgvs_p": "p.Ser494Arg",
"transcript": "ENST00000850557.1",
"protein_id": "ENSP00000520850.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 568,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850557.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1482T>A",
"hgvs_p": "p.Ser494Arg",
"transcript": "NM_001319181.2",
"protein_id": "NP_001306110.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 544,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319181.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1326T>A",
"hgvs_p": "p.Ser442Arg",
"transcript": "NM_001319179.2",
"protein_id": "NP_001306108.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 516,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319179.2"
},
{
"aa_ref": "S",
"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": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1320T>A",
"hgvs_p": "p.Ser440Arg",
"transcript": "NM_001436845.1",
"protein_id": "NP_001423774.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 514,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436845.1"
},
{
"aa_ref": "S",
"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": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1320T>A",
"hgvs_p": "p.Ser440Arg",
"transcript": "ENST00000879050.1",
"protein_id": "ENSP00000549109.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 514,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879050.1"
},
{
"aa_ref": "S",
"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": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1239T>A",
"hgvs_p": "p.Ser413Arg",
"transcript": "ENST00000955701.1",
"protein_id": "ENSP00000625760.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 487,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955701.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1161T>A",
"hgvs_p": "p.Ser387Arg",
"transcript": "NM_001319180.2",
"protein_id": "NP_001306109.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 461,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319180.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.966T>A",
"hgvs_p": "p.Ser322Arg",
"transcript": "ENST00000955700.1",
"protein_id": "ENSP00000625759.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 396,
"cds_start": 966,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955700.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.501T>A",
"hgvs_p": "p.Ser167Arg",
"transcript": "ENST00000461384.6",
"protein_id": "ENSP00000454978.1",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 217,
"cds_start": 501,
"cds_end": null,
"cds_length": 654,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461384.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.303T>A",
"hgvs_p": "p.Ser101Arg",
"transcript": "ENST00000445969.1",
"protein_id": "ENSP00000415087.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 136,
"cds_start": 303,
"cds_end": null,
"cds_length": 411,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445969.1"
},
{
"aa_ref": "S",
"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": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "c.1326T>A",
"hgvs_p": "p.Ser442Arg",
"transcript": "XM_011541233.2",
"protein_id": "XP_011539535.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 516,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541233.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1276T>A",
"hgvs_p": null,
"transcript": "ENST00000235878.5",
"protein_id": "ENSP00000235878.5",
"transcript_support_level": 2,
"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": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000235878.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.2408T>A",
"hgvs_p": null,
"transcript": "ENST00000370482.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000370482.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.1274T>A",
"hgvs_p": null,
"transcript": "NR_135007.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135007.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"hgvs_c": "n.*1276T>A",
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"transcript": "ENST00000235878.5",
"protein_id": "ENSP00000235878.5",
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000235878.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307222",
"gene_hgnc_id": null,
"hgvs_c": "n.115+15945A>T",
"hgvs_p": null,
"transcript": "ENST00000824610.1",
"protein_id": null,
"transcript_support_level": null,
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000824610.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ENSG00000307222",
"gene_hgnc_id": null,
"hgvs_c": "n.124-3084A>T",
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"transcript": "ENST00000824611.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000824611.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000307222",
"gene_hgnc_id": null,
"hgvs_c": "n.128+15945A>T",
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"transcript": "ENST00000824612.1",
"protein_id": null,
"transcript_support_level": null,
"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": 415,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000824612.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000307222",
"gene_hgnc_id": null,
"hgvs_c": "n.120-3084A>T",
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"transcript": "ENST00000824613.1",
"protein_id": null,
"transcript_support_level": null,
"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": 925,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000824613.1"
}
],
"gene_symbol": "GBP3",
"gene_hgnc_id": 4184,
"dbsnp": "rs773197183",
"frequency_reference_population": 0.000016112,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000157337,
"gnomad_genomes_af": 0.0000197537,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1525910198688507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.4382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.108,
"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_018284.3",
"gene_symbol": "GBP3",
"hgnc_id": 4184,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1563T>A",
"hgvs_p": "p.Ser521Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000824610.1",
"gene_symbol": "ENSG00000307222",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.115+15945A>T",
"hgvs_p": null
}
],
"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
}