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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: 7-92235622-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92235622&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92235622,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000394505.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_194454.3",
"protein_id": "NP_919436.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000394505.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000394505.7",
"protein_id": "ENSP00000378013.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_194454.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289027",
"gene_hgnc_id": null,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000692281.1",
"protein_id": "ENSP00000510568.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1120,
"cds_start": 510,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000458493.6",
"protein_id": "ENSP00000396352.2",
"transcript_support_level": 4,
"aa_start": 170,
"aa_end": null,
"aa_length": 896,
"cds_start": 510,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000340022.6",
"protein_id": "ENSP00000344668.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000412043.6",
"protein_id": "ENSP00000410909.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000458177.7",
"protein_id": "ENSP00000391675.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.262A>G",
"hgvs_p": null,
"transcript": "ENST00000475770.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.1141A>G",
"hgvs_p": null,
"transcript": "ENST00000486261.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000650585.2",
"protein_id": "ENSP00000498010.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 799,
"cds_start": 510,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "ENST00000691972.1",
"protein_id": "ENSP00000510591.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 799,
"cds_start": 510,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350672.1",
"protein_id": "NP_001337601.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350673.1",
"protein_id": "NP_001337602.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350674.1",
"protein_id": "NP_001337603.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350675.1",
"protein_id": "NP_001337604.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350676.1",
"protein_id": "NP_001337605.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350677.1",
"protein_id": "NP_001337606.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350678.1",
"protein_id": "NP_001337607.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350679.1",
"protein_id": "NP_001337608.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350680.1",
"protein_id": "NP_001337609.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350681.1",
"protein_id": "NP_001337610.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
"transcript": "NM_001350682.1",
"protein_id": "NP_001337611.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 736,
"cds_start": 510,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln",
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{
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{
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],
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"gene_symbol": "KRIT1",
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"hgvs_c": "n.486-17A>G",
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"transcript": "ENST00000686785.1",
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}
],
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"dbsnp": "rs200684252",
"frequency_reference_population": 0.00010533686,
"hom_count_reference_population": 1,
"allele_count_reference_population": 170,
"gnomad_exomes_af": 0.0000978387,
"gnomad_genomes_af": 0.000177305,
"gnomad_exomes_ac": 143,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"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": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.817,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394505.7",
"gene_symbol": "KRIT1",
"hgnc_id": 1573,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000458493.6",
"gene_symbol": "ENSG00000285953",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000692281.1",
"gene_symbol": "ENSG00000289027",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Gln170Gln"
}
],
"clinvar_disease": "Cerebral cavernous malformation,Inborn genetic diseases,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Cerebral cavernous malformation|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}