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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: 6-31161843-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31161843&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31161843,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000376257.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_007109.3",
"protein_id": "NP_009040.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": "ENST00000376257.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000376257.8",
"protein_id": "ENSP00000365433.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": "NM_007109.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000376255.4",
"protein_id": "ENSP00000365431.4",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001077511.2",
"protein_id": "NP_001070979.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001318908.2",
"protein_id": "NP_001305837.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438628.1",
"protein_id": "NP_001425557.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438629.1",
"protein_id": "NP_001425558.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438630.1",
"protein_id": "NP_001425559.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000706778.1",
"protein_id": "ENSP00000516543.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000706779.1",
"protein_id": "ENSP00000516544.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000706780.1",
"protein_id": "ENSP00000516545.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000706781.1",
"protein_id": "ENSP00000516546.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000706787.1",
"protein_id": "ENSP00000516551.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 345,
"cds_start": 635,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000542218.2",
"protein_id": "ENSP00000439397.2",
"transcript_support_level": 3,
"aa_start": 212,
"aa_end": null,
"aa_length": 297,
"cds_start": 635,
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"cdna_start": 1493,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438631.1",
"protein_id": "NP_001425560.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 268,
"cds_start": 635,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438632.1",
"protein_id": "NP_001425561.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
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"cds_start": 635,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438633.1",
"protein_id": "NP_001425562.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 268,
"cds_start": 635,
"cds_end": null,
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"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "NM_001438634.1",
"protein_id": "NP_001425563.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 268,
"cds_start": 635,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu",
"transcript": "ENST00000706782.1",
"protein_id": "ENSP00000516547.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 268,
"cds_start": 635,
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"cdna_start": 1575,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Gly156Arg",
"transcript": "NM_001438635.1",
"protein_id": "NP_001425564.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 200,
"cds_start": 466,
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"cdna_start": 1066,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Gly156Arg",
"transcript": "NM_001438636.1",
"protein_id": "NP_001425565.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 200,
"cds_start": 466,
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"cdna_start": 1173,
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"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Gly156Arg",
"transcript": "ENST00000706783.1",
"protein_id": "ENSP00000516548.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 200,
"cds_start": 466,
"cds_end": null,
"cds_length": 603,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Gly156Arg",
"transcript": "ENST00000706786.1",
"protein_id": "ENSP00000516550.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "ENST00000706785.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 2,
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"gene_symbol": "TCF19",
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"hgvs_c": "n.586G>A",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "TCF19",
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"hgvs_c": "n.1127G>A",
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"transcript": "NR_199382.1",
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"feature": null
}
],
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"dbsnp": "rs1361314154",
"frequency_reference_population": 0.000002738503,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027385,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1868310272693634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.879,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": "ENST00000376257.8",
"gene_symbol": "TCF19",
"hgnc_id": 11629,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Gly212Glu"
}
],
"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
}