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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: 1-25563716-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25563716&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25563716,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015627.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "NM_015627.3",
"protein_id": "NP_056442.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 308,
"cds_start": 672,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374338.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015627.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "ENST00000374338.5",
"protein_id": "ENSP00000363458.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 308,
"cds_start": 672,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015627.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374338.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "n.394C>T",
"hgvs_p": null,
"transcript": "ENST00000484476.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000484476.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.735C>T",
"hgvs_p": "p.Ser245Ser",
"transcript": "ENST00000894925.1",
"protein_id": "ENSP00000564984.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 329,
"cds_start": 735,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894925.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "ENST00000894924.1",
"protein_id": "ENSP00000564983.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 314,
"cds_start": 672,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894924.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "ENST00000894922.1",
"protein_id": "ENSP00000564981.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 307,
"cds_start": 672,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894922.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Ser198Ser",
"transcript": "ENST00000915364.1",
"protein_id": "ENSP00000585423.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 282,
"cds_start": 594,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915364.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.588C>T",
"hgvs_p": "p.Ser196Ser",
"transcript": "ENST00000894923.1",
"protein_id": "ENSP00000564982.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 280,
"cds_start": 588,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894923.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "ENST00000718277.1",
"protein_id": "ENSP00000520715.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 270,
"cds_start": 672,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718277.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.144C>T",
"hgvs_p": "p.Ser48Ser",
"transcript": "ENST00000960394.1",
"protein_id": "ENSP00000630453.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 132,
"cds_start": 144,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960394.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_011541209.4",
"protein_id": "XP_011539511.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 307,
"cds_start": 672,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541209.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_047417473.1",
"protein_id": "XP_047273429.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 307,
"cds_start": 672,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417473.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Ser197Ser",
"transcript": "XM_017000994.3",
"protein_id": "XP_016856483.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 281,
"cds_start": 591,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000994.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Ser197Ser",
"transcript": "XM_047417482.1",
"protein_id": "XP_047273438.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 280,
"cds_start": 591,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417482.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_006710559.5",
"protein_id": "XP_006710622.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 278,
"cds_start": 672,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710559.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_011541210.4",
"protein_id": "XP_011539512.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 277,
"cds_start": 672,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541210.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_006710560.5",
"protein_id": "XP_006710623.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 270,
"cds_start": 672,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710560.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_011541211.4",
"protein_id": "XP_011539513.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 269,
"cds_start": 672,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541211.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_006710561.5",
"protein_id": "XP_006710624.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 264,
"cds_start": 672,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710561.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_011541212.4",
"protein_id": "XP_011539514.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 263,
"cds_start": 672,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541212.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.537C>T",
"hgvs_p": "p.Ser179Ser",
"transcript": "XM_024446315.2",
"protein_id": "XP_024302083.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 263,
"cds_start": 537,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446315.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.591C>T",
"hgvs_p": "p.Ser197Ser",
"transcript": "XM_047417497.1",
"protein_id": "XP_047273453.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 251,
"cds_start": 591,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"exon_count": 3,
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{
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{
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"gene_symbol": "LDLRAP1",
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"hgvs_c": "n.765C>T",
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"transcript": "XR_946603.4",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_946603.4"
}
],
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"dbsnp": "rs41291054",
"frequency_reference_population": 0.0029231794,
"hom_count_reference_population": 11,
"allele_count_reference_population": 4718,
"gnomad_exomes_af": 0.00303768,
"gnomad_genomes_af": 0.00182467,
"gnomad_exomes_ac": 4440,
"gnomad_genomes_ac": 278,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"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": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.916,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015627.3",
"gene_symbol": "LDLRAP1",
"hgnc_id": 18640,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ser224Ser"
}
],
"clinvar_disease": " 4, familial,Cardiovascular phenotype,Familial hypercholesterolemia,Hypercholesterolemia,LDLRAP1-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:5 B:2",
"phenotype_combined": "not provided|Hypercholesterolemia, familial, 4|Familial hypercholesterolemia|Cardiovascular phenotype|not specified|LDLRAP1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}