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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: X-154779214-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154779214&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154779214,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002436.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"transcript": "NM_002436.4",
"protein_id": "NP_002427.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 466,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369534.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002436.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"transcript": "ENST00000369534.8",
"protein_id": "ENSP00000358547.3",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 466,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002436.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369534.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Ser435Asn",
"transcript": "ENST00000393531.5",
"protein_id": "ENSP00000377165.1",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 446,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393531.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"transcript": "ENST00000934478.1",
"protein_id": "ENSP00000604537.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 466,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934478.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Ser454Asn",
"transcript": "ENST00000955647.1",
"protein_id": "ENSP00000625706.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 465,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955647.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Ser438Asn",
"transcript": "NM_001166460.2",
"protein_id": "NP_001159932.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 449,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166460.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Ser435Asn",
"transcript": "NM_001166461.2",
"protein_id": "NP_001159933.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 446,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166461.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Ser432Asn",
"transcript": "ENST00000955646.1",
"protein_id": "ENSP00000625705.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 443,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955646.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Ser428Asn",
"transcript": "ENST00000907097.1",
"protein_id": "ENSP00000577156.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 439,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907097.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Ser425Asn",
"transcript": "NM_001166462.2",
"protein_id": "NP_001159934.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 436,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166462.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Ser425Asn",
"transcript": "ENST00000413259.7",
"protein_id": "ENSP00000400155.3",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 436,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413259.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1223G>A",
"hgvs_p": "p.Ser408Asn",
"transcript": "ENST00000907099.1",
"protein_id": "ENSP00000577158.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 419,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907099.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Ser407Asn",
"transcript": "ENST00000955645.1",
"protein_id": "ENSP00000625704.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 418,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955645.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Ser405Asn",
"transcript": "ENST00000907098.1",
"protein_id": "ENSP00000577157.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 416,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907098.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.905G>A",
"hgvs_p": "p.Ser302Asn",
"transcript": "ENST00000907100.1",
"protein_id": "ENSP00000577159.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 313,
"cds_start": 905,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907100.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Ser428Asn",
"transcript": "XM_011531167.2",
"protein_id": "XP_011529469.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 439,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531167.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Ser409Asn",
"transcript": "XM_047442123.1",
"protein_id": "XP_047298079.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 420,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442123.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Ser398Asn",
"transcript": "XM_047442124.1",
"protein_id": "XP_047298080.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 409,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442124.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Ser329Asn",
"transcript": "XM_011531169.2",
"protein_id": "XP_011529471.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 340,
"cds_start": 986,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531169.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "c.905G>A",
"hgvs_p": "p.Ser302Asn",
"transcript": "XM_024452385.2",
"protein_id": "XP_024308153.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 313,
"cds_start": 905,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452385.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "n.*1288G>A",
"hgvs_p": null,
"transcript": "ENST00000439370.5",
"protein_id": "ENSP00000400700.1",
"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": "ENST00000439370.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "n.498G>A",
"hgvs_p": null,
"transcript": "ENST00000482757.1",
"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": "retained_intron",
"feature": "ENST00000482757.1"
},
{
"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": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "n.1850G>A",
"hgvs_p": null,
"transcript": "ENST00000491955.5",
"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": "retained_intron",
"feature": "ENST00000491955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"hgvs_c": "n.*1288G>A",
"hgvs_p": null,
"transcript": "ENST00000439370.5",
"protein_id": "ENSP00000400700.1",
"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": "ENST00000439370.5"
}
],
"gene_symbol": "MPP1",
"gene_hgnc_id": 7219,
"dbsnp": "rs782458500",
"frequency_reference_population": 0.0000049575265,
"hom_count_reference_population": 4,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000455435,
"gnomad_genomes_af": 0.00000889442,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08901607990264893,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0817,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.26,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002436.4",
"gene_symbol": "MPP1",
"hgnc_id": 7219,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn"
}
],
"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
}