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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: 2-47046372-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47046372&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47046372,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001288951.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Leu620Leu",
"transcript": "NM_020458.4",
"protein_id": "NP_065191.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 858,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319190.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020458.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Leu620Leu",
"transcript": "ENST00000319190.11",
"protein_id": "ENSP00000316699.5",
"transcript_support_level": 2,
"aa_start": 620,
"aa_end": null,
"aa_length": 858,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020458.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319190.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Leu620Leu",
"transcript": "ENST00000394850.6",
"protein_id": "ENSP00000378320.2",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 882,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394850.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*1609C>T",
"hgvs_p": null,
"transcript": "ENST00000409825.5",
"protein_id": "ENSP00000386521.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409825.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*709C>T",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441914.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.967C>T",
"hgvs_p": null,
"transcript": "ENST00000484061.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484061.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.1264C>T",
"hgvs_p": null,
"transcript": "ENST00000491786.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*1609C>T",
"hgvs_p": null,
"transcript": "ENST00000409825.5",
"protein_id": "ENSP00000386521.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409825.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*709C>T",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441914.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1989C>T",
"hgvs_p": "p.Leu663Leu",
"transcript": "ENST00000956434.1",
"protein_id": "ENSP00000626493.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 901,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956434.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Leu620Leu",
"transcript": "NM_001288951.2",
"protein_id": "NP_001275880.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 882,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288951.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1932C>T",
"hgvs_p": "p.Leu644Leu",
"transcript": "ENST00000956433.1",
"protein_id": "ENSP00000626492.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 882,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956433.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Leu612Leu",
"transcript": "ENST00000895463.1",
"protein_id": "ENSP00000565522.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 850,
"cds_start": 1836,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895463.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1806C>T",
"hgvs_p": "p.Leu602Leu",
"transcript": "ENST00000895461.1",
"protein_id": "ENSP00000565520.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 840,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895461.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Leu586Leu",
"transcript": "NM_001288953.2",
"protein_id": "NP_001275882.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 824,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288953.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Leu586Leu",
"transcript": "ENST00000409245.5",
"protein_id": "ENSP00000386307.1",
"transcript_support_level": 2,
"aa_start": 586,
"aa_end": null,
"aa_length": 824,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409245.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Leu620Leu",
"transcript": "ENST00000895464.1",
"protein_id": "ENSP00000565523.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 813,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895464.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1638C>T",
"hgvs_p": "p.Leu546Leu",
"transcript": "ENST00000937410.1",
"protein_id": "ENSP00000607469.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 784,
"cds_start": 1638,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937410.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Leu537Leu",
"transcript": "ENST00000895465.1",
"protein_id": "ENSP00000565524.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 775,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895465.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1560C>T",
"hgvs_p": "p.Leu520Leu",
"transcript": "ENST00000895462.1",
"protein_id": "ENSP00000565521.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 758,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895462.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Leu537Leu",
"transcript": "ENST00000937409.1",
"protein_id": "ENSP00000607468.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 730,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937409.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1389C>T",
"hgvs_p": "p.Leu463Leu",
"transcript": "ENST00000937411.1",
"protein_id": "ENSP00000607470.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 701,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2106,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
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"exon_rank": null,
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"exon_count": 17,
"intron_rank": 16,
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"transcript": "ENST00000461601.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461601.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "STPG4",
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"hgvs_c": "n.518+445G>A",
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"transcript_support_level": 4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496939.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "TTC7A",
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"hgvs_c": "n.751-14397C>T",
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"transcript": "ENST00000651101.1",
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000651101.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "TTC7A",
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"hgvs_c": "c.*559C>T",
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"transcript": "XM_047445147.1",
"protein_id": "XP_047301103.1",
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"aa_length": 632,
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"cds_length": 1899,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445147.1"
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{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.*70C>T",
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"transcript": "XM_047445149.1",
"protein_id": "XP_047301105.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 620,
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"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445149.1"
}
],
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"dbsnp": "rs13427658",
"frequency_reference_population": 0.005434513,
"hom_count_reference_population": 424,
"allele_count_reference_population": 8772,
"gnomad_exomes_af": 0.00307826,
"gnomad_genomes_af": 0.0280569,
"gnomad_exomes_ac": 4500,
"gnomad_genomes_ac": 4272,
"gnomad_exomes_homalt": 213,
"gnomad_genomes_homalt": 211,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.335,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001288951.2",
"gene_symbol": "TTC7A",
"hgnc_id": 19750,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Leu620Leu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000496939.1",
"gene_symbol": "STPG4",
"hgnc_id": 26850,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.518+445G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Multiple gastrointestinal atresias,TTC7A-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Multiple gastrointestinal atresias|not provided|TTC7A-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}