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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: 2-27326754-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27326754&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27326754,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001521.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001035521.3",
"protein_id": "NP_001030598.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "ENST00000264720.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035521.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000264720.8",
"protein_id": "ENSP00000264720.3",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "NM_001035521.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264720.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000359541.6",
"protein_id": "ENSP00000352536.2",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359541.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1181A>G",
"hgvs_p": "p.Asn394Ser",
"transcript": "ENST00000454704.5",
"protein_id": "ENSP00000393429.1",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 419,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454704.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2744A>G",
"hgvs_p": "p.Asn915Ser",
"transcript": "ENST00000957129.1",
"protein_id": "ENSP00000627188.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 940,
"cds_start": 2744,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2806,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957129.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001318909.4",
"protein_id": "NP_001305838.2",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318909.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001388380.3",
"protein_id": "NP_001375309.2",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388380.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394503.1",
"protein_id": "NP_001381432.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394503.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394504.1",
"protein_id": "NP_001381433.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2805,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394504.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394505.1",
"protein_id": "NP_001381434.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394505.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394506.1",
"protein_id": "NP_001381435.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394506.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394507.1",
"protein_id": "NP_001381436.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394507.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394508.1",
"protein_id": "NP_001381437.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394508.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394509.1",
"protein_id": "NP_001381438.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3430,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394509.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394510.1",
"protein_id": "NP_001381439.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394510.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001394511.1",
"protein_id": "NP_001381440.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394511.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "NM_001521.4",
"protein_id": "NP_001512.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001521.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000872596.1",
"protein_id": "ENSP00000542655.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872596.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000872597.1",
"protein_id": "ENSP00000542656.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872597.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000872598.1",
"protein_id": "ENSP00000542657.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872598.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000872599.1",
"protein_id": "ENSP00000542658.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 911,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3152,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872599.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser",
"transcript": "ENST00000872601.1",
"protein_id": "ENSP00000542660.1",
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],
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"exon_count": 19,
"intron_rank": null,
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"hgvs_p": "p.Asn810Ser",
"transcript": "ENST00000912120.1",
"protein_id": "ENSP00000582179.1",
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"aa_length": 835,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912120.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
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"exon_count": 20,
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"gene_symbol": "GTF3C2",
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"hgvs_c": "c.3002A>G",
"hgvs_p": "p.Asn1001Ser",
"transcript": "XM_047444016.1",
"protein_id": "XP_047299972.1",
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"aa_start": 1001,
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"cdna_start": 3435,
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"biotype": "protein_coding",
"feature": "XM_047444016.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "GTF3C2",
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"hgvs_c": "c.396+423A>G",
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"transcript": "ENST00000457098.5",
"protein_id": "ENSP00000409043.1",
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"aa_length": 141,
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"cds_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457098.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.160-31A>G",
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"transcript": "ENST00000431028.5",
"protein_id": "ENSP00000399339.1",
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": 78,
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"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431028.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
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"gene_symbol": "GTF3C2",
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"hgvs_c": "n.702A>G",
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"transcript": "ENST00000495298.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495298.1"
}
],
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"dbsnp": "rs144448178",
"frequency_reference_population": 0.0000034202767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342028,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01975327730178833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.0484,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.324,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001521.4",
"gene_symbol": "GTF3C2",
"hgnc_id": 4665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Asn886Ser"
}
],
"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
}