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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: 2-27328071-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27328071&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27328071,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001035521.3",
"protein_id": "NP_001030598.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2425,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "ENST00000264720.8",
"protein_id": "ENSP00000264720.3",
"transcript_support_level": 1,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2425,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "ENST00000359541.6",
"protein_id": "ENSP00000352536.2",
"transcript_support_level": 1,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2805,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Asn300Ser",
"transcript": "ENST00000454704.5",
"protein_id": "ENSP00000393429.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 419,
"cds_start": 899,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454704.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "n.*97A>G",
"hgvs_p": null,
"transcript": "ENST00000415683.2",
"protein_id": "ENSP00000414422.2",
"transcript_support_level": 5,
"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": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415683.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "n.*97A>G",
"hgvs_p": null,
"transcript": "ENST00000415683.2",
"protein_id": "ENSP00000414422.2",
"transcript_support_level": 5,
"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": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415683.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2462A>G",
"hgvs_p": "p.Asn821Ser",
"transcript": "ENST00000957129.1",
"protein_id": "ENSP00000627188.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 940,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2524,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001318909.4",
"protein_id": "NP_001305838.2",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3077,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001388380.3",
"protein_id": "NP_001375309.2",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2744,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394503.1",
"protein_id": "NP_001381432.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2511,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394504.1",
"protein_id": "NP_001381433.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2523,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394505.1",
"protein_id": "NP_001381434.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2709,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394506.1",
"protein_id": "NP_001381435.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2611,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394507.1",
"protein_id": "NP_001381436.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2601,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394508.1",
"protein_id": "NP_001381437.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2829,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394509.1",
"protein_id": "NP_001381438.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3148,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394510.1",
"protein_id": "NP_001381439.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3163,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001394511.1",
"protein_id": "NP_001381440.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2525,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "NM_001521.4",
"protein_id": "NP_001512.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2501,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "ENST00000872596.1",
"protein_id": "ENSP00000542655.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2934,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "ENST00000872597.1",
"protein_id": "ENSP00000542656.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 911,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2738,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser",
"transcript": "ENST00000872598.1",
"protein_id": "ENSP00000542657.1",
"transcript_support_level": 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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{
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],
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"biotype": "retained_intron",
"feature": "ENST00000495298.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "GTF3C2",
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"transcript": "ENST00000484680.1",
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"biotype": "retained_intron",
"feature": "ENST00000484680.1"
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],
"gene_symbol": "GTF3C2",
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"dbsnp": "rs777643601",
"frequency_reference_population": 0.000049033908,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000534688,
"gnomad_genomes_af": 0.00000656452,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05051940679550171,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.743,
"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": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001521.4",
"gene_symbol": "GTF3C2",
"hgnc_id": 4665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.Asn792Ser"
}
],
"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
}