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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: 2-44323293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44323293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44323293,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006036.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "NM_001171613.2",
"protein_id": "NP_001165084.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409411.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171613.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "ENST00000409411.6",
"protein_id": "ENSP00000387095.2",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001171613.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409411.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "ENST00000260648.10",
"protein_id": "ENSP00000260648.6",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260648.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "ENST00000409936.5",
"protein_id": "ENSP00000386543.1",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409936.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"transcript": "ENST00000378511.7",
"protein_id": "ENSP00000367772.3",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 665,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378511.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.1865G>A",
"hgvs_p": null,
"transcript": "ENST00000425263.5",
"protein_id": "ENSP00000391456.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000425263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.1865G>A",
"hgvs_p": null,
"transcript": "ENST00000426481.5",
"protein_id": "ENSP00000409480.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000426481.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "NM_001171603.1",
"protein_id": "NP_001165074.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171603.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "NM_001171606.2",
"protein_id": "NP_001165077.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171606.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "NM_001374275.1",
"protein_id": "NP_001361204.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374275.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "NM_001374276.1",
"protein_id": "NP_001361205.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374276.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "NM_006036.4",
"protein_id": "NP_006027.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006036.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "ENST00000409272.5",
"protein_id": "ENSP00000386909.1",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409272.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "ENST00000410081.5",
"protein_id": "ENSP00000386509.1",
"transcript_support_level": 5,
"aa_start": 622,
"aa_end": null,
"aa_length": 727,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410081.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"transcript": "NM_001042385.2",
"protein_id": "NP_001035844.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 665,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042385.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"transcript": "NM_001042386.2",
"protein_id": "NP_001035845.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 661,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042386.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"transcript": "ENST00000378520.7",
"protein_id": "ENSP00000367781.3",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 661,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378520.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "NM_001171617.1",
"protein_id": "NP_001165088.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171617.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "NM_001374277.1",
"protein_id": "NP_001361206.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374277.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "ENST00000409957.5",
"protein_id": "ENSP00000387241.1",
"transcript_support_level": 5,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409957.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "ENST00000541738.5",
"protein_id": "ENSP00000439626.1",
"transcript_support_level": 2,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541738.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "ENST00000906097.1",
"protein_id": "ENSP00000576156.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906097.1"
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"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "XM_047446445.1",
"protein_id": "XP_047302401.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 638,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446445.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "XM_047446446.1",
"protein_id": "XP_047302402.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 589,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446446.1"
}
],
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"dbsnp": "rs375292548",
"frequency_reference_population": 0.000013073995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000130641,
"gnomad_genomes_af": 0.0000131686,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07341688871383667,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.778,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006036.4",
"gene_symbol": "PREPL",
"hgnc_id": 30228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His"
}
],
"clinvar_disease": " 22, congenital,Myasthenic syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Myasthenic syndrome, congenital, 22",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}