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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: 3-52232014-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52232014&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52232014,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007284.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "NM_007284.4",
"protein_id": "NP_009215.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 349,
"cds_start": 212,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": "ENST00000305533.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007284.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000305533.10",
"protein_id": "ENSP00000303908.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 349,
"cds_start": 212,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": "NM_007284.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305533.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.-83A>G",
"hgvs_p": null,
"transcript": "ENST00000679296.1",
"protein_id": "ENSP00000504576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679296.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000863526.1",
"protein_id": "ENSP00000533585.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 348,
"cds_start": 212,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863526.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000863527.1",
"protein_id": "ENSP00000533586.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 347,
"cds_start": 212,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863527.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000970732.1",
"protein_id": "ENSP00000640791.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 347,
"cds_start": 212,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970732.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000913256.1",
"protein_id": "ENSP00000583315.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 340,
"cds_start": 212,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913256.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000863528.1",
"protein_id": "ENSP00000533587.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 327,
"cds_start": 212,
"cds_end": null,
"cds_length": 984,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863528.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000678330.1",
"protein_id": "ENSP00000504436.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 318,
"cds_start": 212,
"cds_end": null,
"cds_length": 957,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678330.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000970733.1",
"protein_id": "ENSP00000640792.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 314,
"cds_start": 212,
"cds_end": null,
"cds_length": 945,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970733.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000913257.1",
"protein_id": "ENSP00000583316.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 258,
"cds_start": 212,
"cds_end": null,
"cds_length": 777,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913257.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000499914.2",
"protein_id": "ENSP00000426464.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 254,
"cds_start": 212,
"cds_end": null,
"cds_length": 765,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000499914.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.-83A>G",
"hgvs_p": null,
"transcript": "ENST00000679296.1",
"protein_id": "ENSP00000504576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "c.-12-475A>G",
"hgvs_p": null,
"transcript": "ENST00000678838.1",
"protein_id": "ENSP00000504408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.345A>G",
"hgvs_p": null,
"transcript": "ENST00000472755.2",
"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": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472755.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.498A>G",
"hgvs_p": null,
"transcript": "ENST00000676552.1",
"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": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.342A>G",
"hgvs_p": null,
"transcript": "ENST00000676800.1",
"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": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.212A>G",
"hgvs_p": null,
"transcript": "ENST00000676988.1",
"protein_id": "ENSP00000503120.1",
"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": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.*51A>G",
"hgvs_p": null,
"transcript": "ENST00000676989.1",
"protein_id": "ENSP00000503679.1",
"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": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.342A>G",
"hgvs_p": null,
"transcript": "ENST00000677058.1",
"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": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.337A>G",
"hgvs_p": null,
"transcript": "ENST00000677127.1",
"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": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"hgvs_c": "n.271A>G",
"hgvs_p": null,
"transcript": "ENST00000678352.1",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"consequences": [
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{
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"feature": "ENST00000678681.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000678700.1"
},
{
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"strand": false,
"consequences": [
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],
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"feature": "ENST00000678882.1"
},
{
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"strand": false,
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],
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"feature": "ENST00000679180.1"
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{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"gene_symbol": "TWF2",
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"transcript": "ENST00000676989.1",
"protein_id": "ENSP00000503679.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676989.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 9,
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"gene_symbol": "TWF2",
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"hgvs_c": "n.*51A>G",
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"transcript": "ENST00000678549.1",
"protein_id": "ENSP00000504044.1",
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678549.1"
}
],
"gene_symbol": "TWF2",
"gene_hgnc_id": 9621,
"dbsnp": null,
"frequency_reference_population": 0.0000020523148,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9048221111297607,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3372,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.176,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007284.4",
"gene_symbol": "TWF2",
"hgnc_id": 9621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Tyr71Cys"
}
],
"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
}