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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: 18-23612148-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23612148&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23612148,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173505.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Ile256Val",
"transcript": "NM_173505.4",
"protein_id": "NP_775776.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 301,
"cds_start": 766,
"cds_end": null,
"cds_length": 906,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": "ENST00000592179.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173505.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Ile256Val",
"transcript": "ENST00000592179.6",
"protein_id": "ENSP00000468354.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 301,
"cds_start": 766,
"cds_end": null,
"cds_length": 906,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": "NM_173505.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592179.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Ile224Val",
"transcript": "ENST00000965701.1",
"protein_id": "ENSP00000635760.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 269,
"cds_start": 670,
"cds_end": null,
"cds_length": 810,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965701.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "ENST00000863695.1",
"protein_id": "ENSP00000533754.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 268,
"cds_start": 667,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863695.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "ENST00000863696.1",
"protein_id": "ENSP00000533755.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 268,
"cds_start": 667,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863696.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "ENST00000863698.1",
"protein_id": "ENSP00000533757.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 268,
"cds_start": 667,
"cds_end": null,
"cds_length": 807,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863698.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "ENST00000863700.1",
"protein_id": "ENSP00000533759.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 268,
"cds_start": 667,
"cds_end": null,
"cds_length": 807,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863700.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "ENST00000863697.1",
"protein_id": "ENSP00000533756.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 264,
"cds_start": 655,
"cds_end": null,
"cds_length": 795,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863697.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000965698.1",
"protein_id": "ENSP00000635757.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 235,
"cds_start": 568,
"cds_end": null,
"cds_length": 708,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965698.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000965700.1",
"protein_id": "ENSP00000635759.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 235,
"cds_start": 568,
"cds_end": null,
"cds_length": 708,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965700.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Ile157Val",
"transcript": "ENST00000863702.1",
"protein_id": "ENSP00000533761.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 202,
"cds_start": 469,
"cds_end": null,
"cds_length": 609,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863702.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Ile157Val",
"transcript": "ENST00000863703.1",
"protein_id": "ENSP00000533762.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 202,
"cds_start": 469,
"cds_end": null,
"cds_length": 609,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863703.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ile120Val",
"transcript": "ENST00000965703.1",
"protein_id": "ENSP00000635762.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 165,
"cds_start": 358,
"cds_end": null,
"cds_length": 498,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965703.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "XM_011525830.3",
"protein_id": "XP_011524132.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 268,
"cds_start": 667,
"cds_end": null,
"cds_length": 807,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525830.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "XM_011525831.4",
"protein_id": "XP_011524133.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 259,
"cds_start": 640,
"cds_end": null,
"cds_length": 780,
"cdna_start": 3297,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525831.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Ile206Val",
"transcript": "XM_011525832.4",
"protein_id": "XP_011524134.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 251,
"cds_start": 616,
"cds_end": null,
"cds_length": 756,
"cdna_start": 3415,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525832.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.723+5584A>G",
"hgvs_p": null,
"transcript": "NM_001308238.2",
"protein_id": "NP_001295167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308238.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.723+5584A>G",
"hgvs_p": null,
"transcript": "ENST00000322980.13",
"protein_id": "ENSP00000323387.9",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
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"cds_length": 807,
"cdna_start": null,
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"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322980.13"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.627+7383A>G",
"hgvs_p": null,
"transcript": "ENST00000965702.1",
"protein_id": "ENSP00000635761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.624+5584A>G",
"hgvs_p": null,
"transcript": "ENST00000863701.1",
"protein_id": "ENSP00000533760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.624+5584A>G",
"hgvs_p": null,
"transcript": "ENST00000863704.1",
"protein_id": "ENSP00000533763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKRD29",
"gene_hgnc_id": 27110,
"hgvs_c": "c.624+5584A>G",
"hgvs_p": null,
"transcript": "ENST00000863705.1",
"protein_id": "ENSP00000533764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863705.1"
},
{
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{
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{
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{
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],
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],
"gene_symbol": "ANKRD29",
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"dbsnp": "rs1778380655",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0766647458076477,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.655,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173505.4",
"gene_symbol": "ANKRD29",
"hgnc_id": 27110,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile256Val"
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],
"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
}