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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: 11-35280920-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35280920&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35280920,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000278379.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "NM_004171.4",
"protein_id": "NP_004162.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 574,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": "ENST00000278379.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "ENST00000278379.9",
"protein_id": "ENSP00000278379.3",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 574,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": "NM_004171.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"transcript": "ENST00000395750.6",
"protein_id": "ENSP00000379099.2",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 570,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Ala493Ala",
"transcript": "ENST00000644779.1",
"protein_id": "ENSP00000494258.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 611,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "ENST00000643134.1",
"protein_id": "ENSP00000495188.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 582,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1383C>T",
"hgvs_p": "p.Ala461Ala",
"transcript": "ENST00000645303.1",
"protein_id": "ENSP00000496667.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 579,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "ENST00000531628.2",
"protein_id": "ENSP00000436029.2",
"transcript_support_level": 5,
"aa_start": 456,
"aa_end": null,
"aa_length": 573,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1724,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Ala453Ala",
"transcript": "ENST00000646080.1",
"protein_id": "ENSP00000494113.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 571,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"transcript": "NM_001439342.1",
"protein_id": "NP_001426271.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 570,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 11520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "NM_001195728.3",
"protein_id": "NP_001182657.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 11639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "NM_001252652.2",
"protein_id": "NP_001239581.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "NM_001439341.1",
"protein_id": "NP_001426270.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000395753.6",
"protein_id": "ENSP00000379102.1",
"transcript_support_level": 2,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000643000.1",
"protein_id": "ENSP00000495164.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000644050.1",
"protein_id": "ENSP00000496123.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000644299.1",
"protein_id": "ENSP00000494669.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000645194.1",
"protein_id": "ENSP00000496093.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000645634.1",
"protein_id": "ENSP00000493945.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ala447Ala",
"transcript": "ENST00000647104.1",
"protein_id": "ENSP00000494025.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 565,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "ENST00000643305.1",
"protein_id": "ENSP00000494828.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 563,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "ENST00000642171.1",
"protein_id": "ENSP00000495538.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 562,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Ala453Ala",
"transcript": "ENST00000643454.1",
"protein_id": "ENSP00000495126.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 560,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC1A2-AS1",
"gene_hgnc_id": 40534,
"hgvs_c": "n.329-4417G>A",
"hgvs_p": null,
"transcript": "ENST00000844196.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"dbsnp": "rs16927239",
"frequency_reference_population": 0.0014602919,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2356,
"gnomad_exomes_af": 0.00152082,
"gnomad_genomes_af": 0.000879704,
"gnomad_exomes_ac": 2222,
"gnomad_genomes_ac": 134,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.45,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000278379.9",
"gene_symbol": "SLC1A2",
"hgnc_id": 10940,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Ala456Ala"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000844195.1",
"gene_symbol": "SLC1A2-AS1",
"hgnc_id": 40534,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.427-895G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}