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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: 1-45014037-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45014037&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45014037,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000374.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "NM_000374.5",
"protein_id": "NP_000365.3",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 367,
"cds_start": 603,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246337.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000374.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000246337.9",
"protein_id": "ENSP00000246337.4",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 367,
"cds_start": 603,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000374.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246337.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.627A>G",
"hgvs_p": "p.Pro209Pro",
"transcript": "ENST00000894914.1",
"protein_id": "ENSP00000564973.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 375,
"cds_start": 627,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894914.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.618A>G",
"hgvs_p": "p.Pro206Pro",
"transcript": "ENST00000894916.1",
"protein_id": "ENSP00000564975.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 372,
"cds_start": 618,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894916.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.618A>G",
"hgvs_p": "p.Pro206Pro",
"transcript": "ENST00000894918.1",
"protein_id": "ENSP00000564977.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 372,
"cds_start": 618,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894918.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000894919.1",
"protein_id": "ENSP00000564978.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 366,
"cds_start": 603,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894919.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000894917.1",
"protein_id": "ENSP00000564976.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 364,
"cds_start": 603,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894917.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000962747.1",
"protein_id": "ENSP00000632806.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 362,
"cds_start": 603,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962747.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Pro180Pro",
"transcript": "ENST00000652287.1",
"protein_id": "ENSP00000498413.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 346,
"cds_start": 540,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652287.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Pro180Pro",
"transcript": "ENST00000937007.1",
"protein_id": "ENSP00000607066.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 343,
"cds_start": 540,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937007.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Pro169Pro",
"transcript": "ENST00000894915.1",
"protein_id": "ENSP00000564974.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 335,
"cds_start": 507,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894915.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.498A>G",
"hgvs_p": "p.Pro166Pro",
"transcript": "ENST00000651476.1",
"protein_id": "ENSP00000498668.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 332,
"cds_start": 498,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651476.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000636293.1",
"protein_id": "ENSP00000490710.1",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 321,
"cds_start": 603,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636293.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000937003.1",
"protein_id": "ENSP00000607062.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 320,
"cds_start": 603,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937003.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.444A>G",
"hgvs_p": "p.Pro148Pro",
"transcript": "ENST00000894921.1",
"protein_id": "ENSP00000564980.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 314,
"cds_start": 444,
"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": "ENST00000894921.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.405A>G",
"hgvs_p": "p.Pro135Pro",
"transcript": "ENST00000936999.1",
"protein_id": "ENSP00000607058.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 301,
"cds_start": 405,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936999.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Pro180Pro",
"transcript": "ENST00000937000.1",
"protein_id": "ENSP00000607059.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 300,
"cds_start": 540,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937000.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000636836.1",
"protein_id": "ENSP00000490594.1",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 298,
"cds_start": 603,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636836.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.366A>G",
"hgvs_p": "p.Pro122Pro",
"transcript": "ENST00000937005.1",
"protein_id": "ENSP00000607064.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 288,
"cds_start": 366,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937005.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.498A>G",
"hgvs_p": "p.Pro166Pro",
"transcript": "ENST00000491773.6",
"protein_id": "ENSP00000498551.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 286,
"cds_start": 498,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491773.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.498A>G",
"hgvs_p": "p.Pro166Pro",
"transcript": "ENST00000652165.1",
"protein_id": "ENSP00000498295.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 286,
"cds_start": 498,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652165.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.342A>G",
"hgvs_p": "p.Pro114Pro",
"transcript": "ENST00000937001.1",
"protein_id": "ENSP00000607060.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 280,
"cds_start": 342,
"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": "ENST00000937001.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
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{
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"protein_coding": false,
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{
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{
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{
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{
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"gene_symbol": "UROD",
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"transcript": "ENST00000473012.1",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473012.1"
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],
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"dbsnp": "rs2228084",
"frequency_reference_population": 0.0660478,
"hom_count_reference_population": 4074,
"allele_count_reference_population": 106610,
"gnomad_exomes_af": 0.0639283,
"gnomad_genomes_af": 0.0863996,
"gnomad_exomes_ac": 93456,
"gnomad_genomes_ac": 13154,
"gnomad_exomes_homalt": 3344,
"gnomad_genomes_homalt": 730,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.44,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000374.5",
"gene_symbol": "UROD",
"hgnc_id": 12591,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Pro201Pro"
}
],
"clinvar_disease": "Familial porphyria cutanea tarda,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Familial porphyria cutanea tarda|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}