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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: 7-107905465-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107905465&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107905465,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000108.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.543A>T",
"hgvs_p": "p.Ile181Ile",
"transcript": "NM_000108.5",
"protein_id": "NP_000099.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 509,
"cds_start": 543,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000205402.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000108.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.543A>T",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000205402.10",
"protein_id": "ENSP00000205402.3",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 509,
"cds_start": 543,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000108.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205402.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*290A>T",
"hgvs_p": null,
"transcript": "ENST00000451081.5",
"protein_id": "ENSP00000388077.1",
"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": "ENST00000451081.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*290A>T",
"hgvs_p": null,
"transcript": "ENST00000451081.5",
"protein_id": "ENSP00000388077.1",
"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": "ENST00000451081.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.525A>T",
"hgvs_p": "p.Ile175Ile",
"transcript": "ENST00000880448.1",
"protein_id": "ENSP00000550507.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 503,
"cds_start": 525,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880448.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.519A>T",
"hgvs_p": "p.Ile173Ile",
"transcript": "ENST00000880447.1",
"protein_id": "ENSP00000550506.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 501,
"cds_start": 519,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880447.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.507A>T",
"hgvs_p": "p.Ile169Ile",
"transcript": "ENST00000880450.1",
"protein_id": "ENSP00000550509.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 497,
"cds_start": 507,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880450.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.474A>T",
"hgvs_p": "p.Ile158Ile",
"transcript": "NM_001289751.1",
"protein_id": "NP_001276680.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 486,
"cds_start": 474,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289751.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.474A>T",
"hgvs_p": "p.Ile158Ile",
"transcript": "ENST00000440410.5",
"protein_id": "ENSP00000417016.1",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 486,
"cds_start": 474,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440410.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Ile152Ile",
"transcript": "ENST00000880449.1",
"protein_id": "ENSP00000550508.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 480,
"cds_start": 456,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880449.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.543A>T",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000880451.1",
"protein_id": "ENSP00000550510.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 479,
"cds_start": 543,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880451.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.543A>T",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000880452.1",
"protein_id": "ENSP00000550511.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 469,
"cds_start": 543,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880452.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.543A>T",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000924908.1",
"protein_id": "ENSP00000594967.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 452,
"cds_start": 543,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924908.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.315A>T",
"hgvs_p": "p.Ile105Ile",
"transcript": "ENST00000957323.1",
"protein_id": "ENSP00000627382.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 433,
"cds_start": 315,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957323.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.246A>T",
"hgvs_p": "p.Ile82Ile",
"transcript": "NM_001289750.1",
"protein_id": "NP_001276679.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 410,
"cds_start": 246,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.516+27A>T",
"hgvs_p": null,
"transcript": "ENST00000924909.1",
"protein_id": "ENSP00000594968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.438+407A>T",
"hgvs_p": null,
"transcript": "NM_001289752.1",
"protein_id": "NP_001276681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.438+407A>T",
"hgvs_p": null,
"transcript": "ENST00000437604.6",
"protein_id": "ENSP00000387542.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437604.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.438+407A>T",
"hgvs_p": null,
"transcript": "ENST00000924910.1",
"protein_id": "ENSP00000594969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*217A>T",
"hgvs_p": null,
"transcript": "ENST00000415325.5",
"protein_id": "ENSP00000402593.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.543A>T",
"hgvs_p": null,
"transcript": "ENST00000417551.5",
"protein_id": "ENSP00000390667.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417551.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.251A>T",
"hgvs_p": null,
"transcript": "ENST00000478414.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000478414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.496A>T",
"hgvs_p": null,
"transcript": "ENST00000489184.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*217A>T",
"hgvs_p": null,
"transcript": "ENST00000415325.5",
"protein_id": "ENSP00000402593.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*76A>T",
"hgvs_p": null,
"transcript": "ENST00000494441.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000494441.1"
}
],
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"dbsnp": "rs61749952",
"frequency_reference_population": 0.0049701827,
"hom_count_reference_population": 29,
"allele_count_reference_population": 8021,
"gnomad_exomes_af": 0.0050214,
"gnomad_genomes_af": 0.00447865,
"gnomad_exomes_ac": 7339,
"gnomad_genomes_ac": 682,
"gnomad_exomes_homalt": 25,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.149,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000108.5",
"gene_symbol": "DLD",
"hgnc_id": 2898,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.543A>T",
"hgvs_p": "p.Ile181Ile"
}
],
"clinvar_disease": "Leigh syndrome,Pyruvate dehydrogenase E3 deficiency,Pyruvate dehydrogenase complex deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3 B:4",
"phenotype_combined": "not specified|not provided|Pyruvate dehydrogenase complex deficiency|Pyruvate dehydrogenase E3 deficiency|Leigh syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}