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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-19537729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=19537729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 19537729,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001410756.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1944G>A",
"hgvs_p": "p.Arg648Arg",
"transcript": "NM_031892.3",
"protein_id": "NP_114098.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 665,
"cds_start": 1944,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397821.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031892.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1944G>A",
"hgvs_p": "p.Arg648Arg",
"transcript": "ENST00000397821.8",
"protein_id": "ENSP00000380921.3",
"transcript_support_level": 1,
"aa_start": 648,
"aa_end": null,
"aa_length": 665,
"cds_start": 1944,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031892.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397821.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Arg611Arg",
"transcript": "ENST00000379698.8",
"protein_id": "ENSP00000369020.4",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 628,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379698.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2076G>A",
"hgvs_p": "p.Arg692Arg",
"transcript": "NM_001410756.1",
"protein_id": "NP_001397685.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 709,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410756.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2076G>A",
"hgvs_p": "p.Arg692Arg",
"transcript": "ENST00000379726.8",
"protein_id": "ENSP00000369049.4",
"transcript_support_level": 5,
"aa_start": 692,
"aa_end": null,
"aa_length": 709,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379726.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2019G>A",
"hgvs_p": "p.Arg673Arg",
"transcript": "NM_001353891.2",
"protein_id": "NP_001340820.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 690,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353891.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2019G>A",
"hgvs_p": "p.Arg673Arg",
"transcript": "ENST00000699668.1",
"protein_id": "ENSP00000514511.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 690,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699668.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.2001G>A",
"hgvs_p": "p.Arg667Arg",
"transcript": "ENST00000878923.1",
"protein_id": "ENSP00000548982.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 684,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878923.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1947G>A",
"hgvs_p": "p.Arg649Arg",
"transcript": "NM_001410757.1",
"protein_id": "NP_001397686.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 666,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410757.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1947G>A",
"hgvs_p": "p.Arg649Arg",
"transcript": "ENST00000699670.1",
"protein_id": "ENSP00000514513.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 666,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699670.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1899G>A",
"hgvs_p": "p.Arg633Arg",
"transcript": "ENST00000699725.1",
"protein_id": "ENSP00000514547.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 650,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699725.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1890G>A",
"hgvs_p": "p.Arg630Arg",
"transcript": "NM_001353892.2",
"protein_id": "NP_001340821.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1890,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353892.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1890G>A",
"hgvs_p": "p.Arg630Arg",
"transcript": "ENST00000699671.1",
"protein_id": "ENSP00000514514.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1890,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699671.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Arg624Arg",
"transcript": "ENST00000970302.1",
"protein_id": "ENSP00000640361.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 641,
"cds_start": 1872,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970302.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1842G>A",
"hgvs_p": "p.Arg614Arg",
"transcript": "NM_001353893.2",
"protein_id": "NP_001340822.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 631,
"cds_start": 1842,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353893.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1842G>A",
"hgvs_p": "p.Arg614Arg",
"transcript": "ENST00000699726.1",
"protein_id": "ENSP00000514711.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 631,
"cds_start": 1842,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699726.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Arg611Arg",
"transcript": "NM_001024666.3",
"protein_id": "NP_001019837.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 628,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024666.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Arg611Arg",
"transcript": "ENST00000699723.1",
"protein_id": "ENSP00000514545.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 628,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699723.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Arg605Arg",
"transcript": "NM_001353890.2",
"protein_id": "NP_001340819.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 622,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353890.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Arg605Arg",
"transcript": "ENST00000699673.1",
"protein_id": "ENSP00000514516.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 622,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699673.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"transcript": "ENST00000970305.1",
"protein_id": "ENSP00000640364.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 608,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970305.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Arg590Arg",
"transcript": "NM_001353895.2",
"protein_id": "NP_001340824.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 607,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
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"transcript": "ENST00000699734.1",
"protein_id": "ENSP00000514552.1",
"transcript_support_level": null,
"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": "ENST00000699734.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"hgvs_c": "n.*1687G>A",
"hgvs_p": null,
"transcript": "ENST00000699735.1",
"protein_id": "ENSP00000514553.1",
"transcript_support_level": null,
"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": "ENST00000699735.1"
}
],
"gene_symbol": "SH3KBP1",
"gene_hgnc_id": 13867,
"dbsnp": "rs769338873",
"frequency_reference_population": 0.0000049616833,
"hom_count_reference_population": 1,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000455518,
"gnomad_genomes_af": 0.00000895937,
"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": -0.3400000035762787,
"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": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.34,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001410756.1",
"gene_symbol": "SH3KBP1",
"hgnc_id": 13867,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.2076G>A",
"hgvs_p": "p.Arg692Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}