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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: 15-75372148-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75372148&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75372148,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015477.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "NM_001145358.2",
"protein_id": "NP_001138830.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": "ENST00000394947.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145358.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000394947.8",
"protein_id": "ENSP00000378402.3",
"transcript_support_level": 1,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": "NM_001145358.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394947.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000360439.8",
"protein_id": "ENSP00000353622.4",
"transcript_support_level": 1,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3835,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360439.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000394949.8",
"protein_id": "ENSP00000378403.4",
"transcript_support_level": 1,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394949.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3746C>G",
"hgvs_p": "p.Thr1249Ser",
"transcript": "ENST00000924394.1",
"protein_id": "ENSP00000594453.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3746,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 4051,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924394.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3668C>G",
"hgvs_p": "p.Thr1223Ser",
"transcript": "ENST00000704310.1",
"protein_id": "ENSP00000515832.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3668,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704310.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "NM_001145357.2",
"protein_id": "NP_001138829.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3867,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145357.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "NM_001437462.1",
"protein_id": "NP_001424391.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4052,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437462.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "NM_001437463.1",
"protein_id": "NP_001424392.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437463.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "NM_015477.3",
"protein_id": "NP_056292.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015477.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000564778.6",
"protein_id": "ENSP00000455204.2",
"transcript_support_level": 2,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3741,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564778.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000565264.2",
"protein_id": "ENSP00000454296.2",
"transcript_support_level": 4,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4108,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565264.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000704312.1",
"protein_id": "ENSP00000515834.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704312.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000865500.1",
"protein_id": "ENSP00000535559.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4235,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865500.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000865504.1",
"protein_id": "ENSP00000535563.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4170,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865504.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000865505.1",
"protein_id": "ENSP00000535564.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4073,
"cdna_end": null,
"cdna_length": 5075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865505.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000865506.1",
"protein_id": "ENSP00000535565.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 4093,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865506.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000924387.1",
"protein_id": "ENSP00000594446.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
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"cds_length": 3822,
"cdna_start": 3922,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924387.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000924389.1",
"protein_id": "ENSP00000594448.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3812,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924389.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000924390.1",
"protein_id": "ENSP00000594449.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 5186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924390.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser",
"transcript": "ENST00000962516.1",
"protein_id": "ENSP00000632575.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3653,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962516.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3650C>G",
"hgvs_p": "p.Thr1217Ser",
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],
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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": "SIN3A",
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},
{
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"gene_symbol": "SIN3A",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704311.1"
}
],
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11290732026100159,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.1022,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.899,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_015477.3",
"gene_symbol": "SIN3A",
"hgnc_id": 19353,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3653C>G",
"hgvs_p": "p.Thr1218Ser"
}
],
"clinvar_disease": "SIN3A-related intellectual disability syndrome due to a point mutation",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "SIN3A-related intellectual disability syndrome due to a point mutation",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}