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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: 20-45895054-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45895054&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45895054,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000308.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "NM_000308.4",
"protein_id": "NP_000299.3",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646241.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000308.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000646241.3",
"protein_id": "ENSP00000493613.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000308.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646241.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1063G>C",
"hgvs_p": "p.Ala355Pro",
"transcript": "ENST00000372484.8",
"protein_id": "ENSP00000361562.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 498,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372484.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000191018.9",
"protein_id": "ENSP00000191018.5",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000191018.9"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000372459.7",
"protein_id": "ENSP00000361537.2",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372459.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.1059G>C",
"hgvs_p": null,
"transcript": "ENST00000484855.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000484855.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Ala388Pro",
"transcript": "ENST00000958428.1",
"protein_id": "ENSP00000628487.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 531,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958428.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Ala376Pro",
"transcript": "ENST00000867522.1",
"protein_id": "ENSP00000537581.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 519,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867522.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1063G>C",
"hgvs_p": "p.Ala355Pro",
"transcript": "ENST00000677394.1",
"protein_id": "ENSP00000504790.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 498,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677394.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "NM_001127695.3",
"protein_id": "NP_001121167.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127695.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000607482.6",
"protein_id": "ENSP00000475524.2",
"transcript_support_level": 3,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607482.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000867515.1",
"protein_id": "ENSP00000537574.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867515.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000867518.1",
"protein_id": "ENSP00000537577.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867518.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000958426.1",
"protein_id": "ENSP00000628485.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958426.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Ala335Pro",
"transcript": "ENST00000867516.1",
"protein_id": "ENSP00000537575.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 478,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867516.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000958422.1",
"protein_id": "ENSP00000628481.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 478,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958422.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Ala335Pro",
"transcript": "ENST00000958423.1",
"protein_id": "ENSP00000628482.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 478,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958423.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000867514.1",
"protein_id": "ENSP00000537573.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 477,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867514.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000867517.1",
"protein_id": "ENSP00000537576.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 467,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867517.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000958432.1",
"protein_id": "ENSP00000628491.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 467,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958432.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.958G>C",
"hgvs_p": "p.Ala320Pro",
"transcript": "NM_001167594.3",
"protein_id": "NP_001161066.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 463,
"cds_start": 958,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167594.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.958G>C",
"hgvs_p": "p.Ala320Pro",
"transcript": "ENST00000354880.9",
"protein_id": "ENSP00000346952.5",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 463,
"cds_start": 958,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354880.9"
},
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678025.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.*374G>C",
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"transcript": "ENST00000678078.1",
"protein_id": "ENSP00000502993.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678078.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.*134G>C",
"hgvs_p": null,
"transcript": "ENST00000678217.1",
"protein_id": "ENSP00000504109.1",
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"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": "ENST00000678217.1"
}
],
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"dbsnp": "rs374059459",
"frequency_reference_population": 0.00003283405,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000266779,
"gnomad_genomes_af": 0.0000919262,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0193842351436615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1839,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.89,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_000308.4",
"gene_symbol": "CTSA",
"hgnc_id": 9251,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro"
}
],
"clinvar_disease": "Combined deficiency of sialidase AND beta galactosidase,Inborn genetic diseases",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Combined deficiency of sialidase AND beta galactosidase|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}