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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: 19-46755605-T-TGGTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755605&ref=T&alt=TGGTGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46755605,
"ref": "T",
"alt": "TGGTGC",
"effect": "frameshift_variant",
"transcript": "NM_024301.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024301.5"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318584.10"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039885.3"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391909.7"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000908841.1",
"protein_id": "ENSP00000578900.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908841.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000908842.1",
"protein_id": "ENSP00000578901.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908842.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000908843.1",
"protein_id": "ENSP00000578902.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908843.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000908844.1",
"protein_id": "ENSP00000578903.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908844.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000908845.1",
"protein_id": "ENSP00000578904.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908845.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000908846.1",
"protein_id": "ENSP00000578905.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908846.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000929288.1",
"protein_id": "ENSP00000599347.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929288.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000929289.1",
"protein_id": "ENSP00000599348.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929289.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000929290.1",
"protein_id": "ENSP00000599349.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929290.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000929291.1",
"protein_id": "ENSP00000599350.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929291.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000962124.1",
"protein_id": "ENSP00000632183.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962124.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000962125.1",
"protein_id": "ENSP00000632184.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962125.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000962126.1",
"protein_id": "ENSP00000632185.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962126.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000962127.1",
"protein_id": "ENSP00000632186.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 163,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962127.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": 55,
"aa_end": null,
"aa_length": 161,
"cds_start": 163,
"cds_end": null,
"cds_length": 487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601299.5"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000593902.1",
"protein_id": "ENSP00000470901.1",
"transcript_support_level": 4,
"aa_start": 55,
"aa_end": null,
"aa_length": 136,
"cds_start": 163,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593902.1"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000600005.5",
"protein_id": "ENSP00000470335.1",
"transcript_support_level": 4,
"aa_start": 55,
"aa_end": null,
"aa_length": 113,
"cds_start": 163,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600005.5"
},
{
"aa_ref": "E",
"aa_alt": "CG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs",
"transcript": "ENST00000600227.5",
"protein_id": "ENSP00000468825.1",
"transcript_support_level": 4,
"aa_start": 55,
"aa_end": null,
"aa_length": 105,
"cds_start": 163,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"gene_hgnc_id": 17997,
"dbsnp": "rs1290836394",
"frequency_reference_population": 0.000011005822,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000110058,
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"gnomad_exomes_ac": 16,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.372,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_024301.5",
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.158_162dupTGCGG",
"hgvs_p": "p.Glu55fs"
}
],
"clinvar_disease": " type A5,Autosomal recessive limb-girdle muscular dystrophy type 2I,Cardiovascular phenotype,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Walker-Warburg congenital muscular dystrophy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Cardiovascular phenotype|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}