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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: 17-81251573-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81251573&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81251573,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001037984.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "NM_001037984.3",
"protein_id": "NP_001033073.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374759.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037984.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000374759.8",
"protein_id": "ENSP00000363891.3",
"transcript_support_level": 5,
"aa_start": 662,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037984.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374759.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000288439.9",
"protein_id": "ENSP00000288439.5",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 780,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288439.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000947966.1",
"protein_id": "ENSP00000618025.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1176,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947966.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000947971.1",
"protein_id": "ENSP00000618030.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947971.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2123G>T",
"hgvs_p": "p.Gly708Val",
"transcript": "ENST00000918313.1",
"protein_id": "ENSP00000588372.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2123,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918313.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2105G>T",
"hgvs_p": "p.Gly702Val",
"transcript": "ENST00000947968.1",
"protein_id": "ENSP00000618027.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947968.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2087G>T",
"hgvs_p": "p.Gly696Val",
"transcript": "ENST00000899482.1",
"protein_id": "ENSP00000569541.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2087,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899482.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2054G>T",
"hgvs_p": "p.Gly685Val",
"transcript": "ENST00000947963.1",
"protein_id": "ENSP00000618022.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947963.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2006G>T",
"hgvs_p": "p.Gly669Val",
"transcript": "ENST00000947967.1",
"protein_id": "ENSP00000618026.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2006,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947967.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000947959.1",
"protein_id": "ENSP00000618018.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947959.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2006G>T",
"hgvs_p": "p.Gly669Val",
"transcript": "ENST00000899487.1",
"protein_id": "ENSP00000569546.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2006,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899487.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000899490.1",
"protein_id": "ENSP00000569549.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1126,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899490.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1961G>T",
"hgvs_p": "p.Gly654Val",
"transcript": "ENST00000899495.1",
"protein_id": "ENSP00000569554.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1961,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899495.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1949G>T",
"hgvs_p": "p.Gly650Val",
"transcript": "ENST00000899485.1",
"protein_id": "ENSP00000569544.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899485.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1868G>T",
"hgvs_p": "p.Gly623Val",
"transcript": "ENST00000899488.1",
"protein_id": "ENSP00000569547.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899488.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1823G>T",
"hgvs_p": "p.Gly608Val",
"transcript": "ENST00000947960.1",
"protein_id": "ENSP00000618019.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1065,
"cds_start": 1823,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947960.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1802G>T",
"hgvs_p": "p.Gly601Val",
"transcript": "ENST00000947969.1",
"protein_id": "ENSP00000618028.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1058,
"cds_start": 1802,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947969.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1787G>T",
"hgvs_p": "p.Gly596Val",
"transcript": "ENST00000947964.1",
"protein_id": "ENSP00000618023.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1053,
"cds_start": 1787,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947964.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Gly589Val",
"transcript": "ENST00000899483.1",
"protein_id": "ENSP00000569542.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1046,
"cds_start": 1766,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899483.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Gly566Val",
"transcript": "ENST00000947970.1",
"protein_id": "ENSP00000618029.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1697,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947970.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000899484.1",
"protein_id": "ENSP00000569543.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
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"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": "ENST00000573058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276101",
"gene_hgnc_id": null,
"hgvs_c": "n.380C>A",
"hgvs_p": null,
"transcript": "ENST00000611259.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000611259.1"
}
],
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"dbsnp": "rs1379604657",
"frequency_reference_population": 7.4330876e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.43309e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06677216291427612,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0716,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.503,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001037984.3",
"gene_symbol": "SLC38A10",
"hgnc_id": 28237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000611259.1",
"gene_symbol": "ENSG00000276101",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.380C>A",
"hgvs_p": null
}
],
"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
}