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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: 6-31161824-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31161824&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31161824,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007109.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_007109.3",
"protein_id": "NP_009040.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": "ENST00000376257.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000376257.8",
"protein_id": "ENSP00000365433.3",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": "NM_007109.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000376255.4",
"protein_id": "ENSP00000365431.4",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001077511.2",
"protein_id": "NP_001070979.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001318908.2",
"protein_id": "NP_001305837.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438628.1",
"protein_id": "NP_001425557.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438629.1",
"protein_id": "NP_001425558.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438630.1",
"protein_id": "NP_001425559.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000706778.1",
"protein_id": "ENSP00000516543.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000706779.1",
"protein_id": "ENSP00000516544.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000706780.1",
"protein_id": "ENSP00000516545.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000706781.1",
"protein_id": "ENSP00000516546.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000706787.1",
"protein_id": "ENSP00000516551.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 345,
"cds_start": 616,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000542218.2",
"protein_id": "ENSP00000439397.2",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 297,
"cds_start": 616,
"cds_end": null,
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"cdna_start": 1474,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438631.1",
"protein_id": "NP_001425560.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 268,
"cds_start": 616,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438632.1",
"protein_id": "NP_001425561.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 268,
"cds_start": 616,
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"cdna_start": 1497,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438633.1",
"protein_id": "NP_001425562.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 268,
"cds_start": 616,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001438634.1",
"protein_id": "NP_001425563.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 268,
"cds_start": 616,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000706782.1",
"protein_id": "ENSP00000516547.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 268,
"cds_start": 616,
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"cdna_start": 1556,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.447G>A",
"hgvs_p": "p.Pro149Pro",
"transcript": "NM_001438635.1",
"protein_id": "NP_001425564.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 200,
"cds_start": 447,
"cds_end": null,
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"cdna_start": 1047,
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"cdna_length": 2967,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.447G>A",
"hgvs_p": "p.Pro149Pro",
"transcript": "NM_001438636.1",
"protein_id": "NP_001425565.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 200,
"cds_start": 447,
"cds_end": null,
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"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.447G>A",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000706783.1",
"protein_id": "ENSP00000516548.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 200,
"cds_start": 447,
"cds_end": null,
"cds_length": 603,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.447G>A",
"hgvs_p": "p.Pro149Pro",
"transcript": "ENST00000706786.1",
"protein_id": "ENSP00000516550.1",
"transcript_support_level": null,
"aa_start": 149,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
"exon_rank": 2,
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"exon_count": 3,
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"transcript": "ENST00000496421.1",
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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": 5,
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"gene_symbol": "TCF19",
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"hgvs_c": "n.401G>A",
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"transcript": "ENST00000706785.1",
"protein_id": "ENSP00000516549.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
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"gene_symbol": "TCF19",
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"hgvs_c": "n.567G>A",
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"transcript": "ENST00000706788.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "TCF19",
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"hgvs_c": "n.1108G>A",
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"transcript": "NR_199382.1",
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"feature": null
}
],
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"dbsnp": "rs761157384",
"frequency_reference_population": 0.000011163178,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000102722,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028968483209609985,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.038,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007109.3",
"gene_symbol": "TCF19",
"hgnc_id": 11629,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Ala206Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}