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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: 17-63710834-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63710834&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63710834,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001003787.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly",
"transcript": "NM_001003787.4",
"protein_id": "NP_001003787.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 351,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336174.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003787.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly",
"transcript": "ENST00000336174.12",
"protein_id": "ENSP00000336655.6",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 351,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003787.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336174.12"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Gly59Gly",
"transcript": "ENST00000375840.9",
"protein_id": "ENSP00000365000.4",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 373,
"cds_start": 177,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375840.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Gly80Gly",
"transcript": "ENST00000392950.9",
"protein_id": "ENSP00000376677.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 348,
"cds_start": 240,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392950.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Gly59Gly",
"transcript": "ENST00000245865.10",
"protein_id": "ENSP00000245865.5",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 234,
"cds_start": 177,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245865.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*389C>T",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"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": "ENST00000580553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*389C>T",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"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": "ENST00000580553.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly",
"transcript": "ENST00000858966.1",
"protein_id": "ENSP00000529025.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 351,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858966.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly",
"transcript": "ENST00000956276.1",
"protein_id": "ENSP00000626335.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 431,
"cds_start": 351,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956276.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly",
"transcript": "ENST00000858963.1",
"protein_id": "ENSP00000529022.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 428,
"cds_start": 351,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858963.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Gly109Gly",
"transcript": "NM_001363786.1",
"protein_id": "NP_001350715.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 423,
"cds_start": 327,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363786.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly",
"transcript": "ENST00000638193.1",
"protein_id": "ENSP00000491928.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 403,
"cds_start": 351,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638193.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Gly88Gly",
"transcript": "NM_001363787.1",
"protein_id": "NP_001350716.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 402,
"cds_start": 264,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363787.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Gly88Gly",
"transcript": "ENST00000638708.1",
"protein_id": "ENSP00000491580.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 402,
"cds_start": 264,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638708.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Gly88Gly",
"transcript": "ENST00000858962.1",
"protein_id": "ENSP00000529021.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 402,
"cds_start": 264,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858962.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Gly88Gly",
"transcript": "ENST00000858965.1",
"protein_id": "ENSP00000529024.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 402,
"cds_start": 264,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858965.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Gly88Gly",
"transcript": "ENST00000858964.1",
"protein_id": "ENSP00000529023.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 399,
"cds_start": 264,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858964.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Gly80Gly",
"transcript": "NM_001003786.3",
"protein_id": "NP_001003786.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 394,
"cds_start": 240,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003786.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Gly80Gly",
"transcript": "ENST00000639835.1",
"protein_id": "ENSP00000492578.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 394,
"cds_start": 240,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639835.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Gly80Gly",
"transcript": "ENST00000640999.1",
"protein_id": "ENSP00000491643.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 394,
"cds_start": 240,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640999.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Gly80Gly",
"transcript": "ENST00000938502.1",
"protein_id": "ENSP00000608561.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 394,
"cds_start": 240,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938502.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
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{
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{
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{
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},
{
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{
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],
"gene_symbol": "STRADA",
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"dbsnp": "rs781381391",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
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"gnomad_genomes_af": 0.0000328593,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 5,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.433,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001003787.4",
"gene_symbol": "STRADA",
"hgnc_id": 30172,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Gly117Gly"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000580553.1",
"gene_symbol": "ENSG00000125695",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*389C>T",
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}
],
"clinvar_disease": " and symptomatic epilepsy, megalencephaly,Polyhydramnios",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Polyhydramnios, megalencephaly, and symptomatic epilepsy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}