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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: 9-131260989-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131260989&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131260989,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033387.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"transcript": "NM_033387.4",
"protein_id": "NP_203745.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 283,
"cds_start": 685,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372271.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033387.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"transcript": "ENST00000372271.4",
"protein_id": "ENSP00000361345.3",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 283,
"cds_start": 685,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033387.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372271.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "ENST00000372269.7",
"protein_id": "ENSP00000361343.3",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 280,
"cds_start": 676,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372269.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"transcript": "NM_001399459.1",
"protein_id": "NP_001386388.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 283,
"cds_start": 685,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399459.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"transcript": "NM_001400581.1",
"protein_id": "NP_001387510.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 283,
"cds_start": 685,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400581.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"transcript": "ENST00000704762.1",
"protein_id": "ENSP00000516028.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 283,
"cds_start": 685,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704762.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "NM_001400583.1",
"protein_id": "NP_001387512.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 280,
"cds_start": 676,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400583.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "NM_001400584.1",
"protein_id": "NP_001387513.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 260,
"cds_start": 616,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400584.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000464831.1",
"protein_id": "ENSP00000419959.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 252,
"cds_start": 592,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464831.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "NM_001400585.1",
"protein_id": "NP_001387514.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 235,
"cds_start": 541,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400585.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"transcript": "NM_001400582.1",
"protein_id": "NP_001387511.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 234,
"cds_start": 538,
"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": "NM_001400582.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400586.1",
"protein_id": "NP_001387515.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400586.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400587.1",
"protein_id": "NP_001387516.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400587.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400588.1",
"protein_id": "NP_001387517.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400588.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400589.1",
"protein_id": "NP_001387518.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400589.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400590.1",
"protein_id": "NP_001387519.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400590.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400591.1",
"protein_id": "NP_001387520.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400591.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400592.1",
"protein_id": "NP_001387521.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400592.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400593.1",
"protein_id": "NP_001387522.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400593.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400594.1",
"protein_id": "NP_001387523.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400594.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "NM_001400595.1",
"protein_id": "NP_001387524.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400595.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "XM_011518568.4",
"protein_id": "XP_011516870.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518568.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Ala72Thr",
"transcript": "XM_047423250.1",
"protein_id": "XP_047279206.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 126,
"cds_start": 214,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423250.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"hgvs_c": "n.1647G>A",
"hgvs_p": null,
"transcript": "ENST00000247295.4",
"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": "pseudogene",
"feature": "ENST00000247295.4"
}
],
"gene_symbol": "FAM78A",
"gene_hgnc_id": 25465,
"dbsnp": "rs531052842",
"frequency_reference_population": 0.000009297367,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889752,
"gnomad_genomes_af": 0.0000131339,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7478854656219482,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5954,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033387.4",
"gene_symbol": "FAM78A",
"hgnc_id": 25465,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}