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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: 19-12647481-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12647481&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12647481,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440570.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2782G>C",
"hgvs_p": "p.Gly928Arg",
"transcript": "NM_000528.4",
"protein_id": "NP_000519.2",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456935.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000528.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2782G>C",
"hgvs_p": "p.Gly928Arg",
"transcript": "ENST00000456935.7",
"protein_id": "ENSP00000395473.2",
"transcript_support_level": 1,
"aa_start": 928,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000528.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456935.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2779G>C",
"hgvs_p": "p.Gly927Arg",
"transcript": "ENST00000221363.9",
"protein_id": "ENSP00000221363.4",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221363.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269242",
"gene_hgnc_id": null,
"hgvs_c": "n.340G>C",
"hgvs_p": null,
"transcript": "ENST00000597692.1",
"protein_id": "ENSP00000470240.1",
"transcript_support_level": 2,
"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": "ENST00000597692.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2830G>C",
"hgvs_p": "p.Gly944Arg",
"transcript": "ENST00000964003.1",
"protein_id": "ENSP00000634062.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2830,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964003.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2785G>C",
"hgvs_p": "p.Gly929Arg",
"transcript": "NM_001440570.1",
"protein_id": "NP_001427499.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440570.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2785G>C",
"hgvs_p": "p.Gly929Arg",
"transcript": "ENST00000858849.1",
"protein_id": "ENSP00000528908.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858849.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2779G>C",
"hgvs_p": "p.Gly927Arg",
"transcript": "NM_001173498.2",
"protein_id": "NP_001166969.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173498.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2776G>C",
"hgvs_p": "p.Gly926Arg",
"transcript": "ENST00000963998.1",
"protein_id": "ENSP00000634057.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963998.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2770G>C",
"hgvs_p": "p.Gly924Arg",
"transcript": "ENST00000963997.1",
"protein_id": "ENSP00000634056.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963997.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2749G>C",
"hgvs_p": "p.Gly917Arg",
"transcript": "ENST00000858857.1",
"protein_id": "ENSP00000528916.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858857.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2731G>C",
"hgvs_p": "p.Gly911Arg",
"transcript": "ENST00000935810.1",
"protein_id": "ENSP00000605869.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 994,
"cds_start": 2731,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935810.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2716G>C",
"hgvs_p": "p.Gly906Arg",
"transcript": "ENST00000858853.1",
"protein_id": "ENSP00000528912.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 989,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858853.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2713G>C",
"hgvs_p": "p.Gly905Arg",
"transcript": "ENST00000858851.1",
"protein_id": "ENSP00000528910.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 988,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858851.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2713G>C",
"hgvs_p": "p.Gly905Arg",
"transcript": "ENST00000963999.1",
"protein_id": "ENSP00000634058.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 988,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963999.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2701G>C",
"hgvs_p": "p.Gly901Arg",
"transcript": "ENST00000858852.1",
"protein_id": "ENSP00000528911.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 984,
"cds_start": 2701,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858852.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2680G>C",
"hgvs_p": "p.Gly894Arg",
"transcript": "ENST00000935811.1",
"protein_id": "ENSP00000605870.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 977,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935811.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2668G>C",
"hgvs_p": "p.Gly890Arg",
"transcript": "ENST00000935809.1",
"protein_id": "ENSP00000605868.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 973,
"cds_start": 2668,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935809.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2665G>C",
"hgvs_p": "p.Gly889Arg",
"transcript": "ENST00000858850.1",
"protein_id": "ENSP00000528909.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 972,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858850.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2596G>C",
"hgvs_p": "p.Gly866Arg",
"transcript": "ENST00000964002.1",
"protein_id": "ENSP00000634061.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 949,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964002.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2566G>C",
"hgvs_p": "p.Gly856Arg",
"transcript": "ENST00000858855.1",
"protein_id": "ENSP00000528914.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 939,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858855.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2503G>C",
"hgvs_p": "p.Gly835Arg",
"transcript": "ENST00000858856.1",
"protein_id": "ENSP00000528915.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 918,
"cds_start": 2503,
"cds_end": null,
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{
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{
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{
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{
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{
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{
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],
"gene_symbol": "MAN2B1",
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"dbsnp": "rs754733253",
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"hom_count_reference_population": 1,
"allele_count_reference_population": 118,
"gnomad_exomes_af": 0.0000752451,
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"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 8,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016765296459197998,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.709,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001440570.1",
"gene_symbol": "MAN2B1",
"hgnc_id": 6826,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2785G>C",
"hgvs_p": "p.Gly929Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000597692.1",
"gene_symbol": "ENSG00000269242",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.340G>C",
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}
],
"clinvar_disease": "Deficiency of alpha-mannosidase,MAN2B1-related disorder,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|Deficiency of alpha-mannosidase|MAN2B1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}