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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: 8-38424546-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38424546&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38424546,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001174067.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.899T>C",
"hgvs_p": "p.Ile300Thr",
"transcript": "NM_023110.3",
"protein_id": "NP_075598.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 822,
"cds_start": 899,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447712.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023110.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.899T>C",
"hgvs_p": "p.Ile300Thr",
"transcript": "ENST00000447712.7",
"protein_id": "ENSP00000400162.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 822,
"cds_start": 899,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023110.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447712.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000425967.8",
"protein_id": "ENSP00000393312.4",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 828,
"cds_start": 893,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425967.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000397091.9",
"protein_id": "ENSP00000380280.5",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 820,
"cds_start": 893,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397091.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000397108.8",
"protein_id": "ENSP00000380297.4",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 820,
"cds_start": 893,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397108.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000397113.6",
"protein_id": "ENSP00000380302.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 820,
"cds_start": 893,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397113.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Ile292Thr",
"transcript": "ENST00000335922.9",
"protein_id": "ENSP00000337247.5",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 812,
"cds_start": 875,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335922.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.632T>C",
"hgvs_p": "p.Ile211Thr",
"transcript": "ENST00000356207.9",
"protein_id": "ENSP00000348537.5",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 733,
"cds_start": 632,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356207.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.626T>C",
"hgvs_p": "p.Ile209Thr",
"transcript": "ENST00000397103.5",
"protein_id": "ENSP00000380292.1",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 733,
"cds_start": 626,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397103.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.626T>C",
"hgvs_p": "p.Ile209Thr",
"transcript": "ENST00000326324.10",
"protein_id": "ENSP00000327229.6",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 731,
"cds_start": 626,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326324.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.1048T>C",
"hgvs_p": null,
"transcript": "ENST00000470826.5",
"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": "retained_intron",
"feature": "ENST00000470826.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.*590T>C",
"hgvs_p": null,
"transcript": "ENST00000487647.5",
"protein_id": "ENSP00000435254.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000487647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.1369T>C",
"hgvs_p": null,
"transcript": "ENST00000496296.5",
"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": "retained_intron",
"feature": "ENST00000496296.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.3178T>C",
"hgvs_p": null,
"transcript": "ENST00000526570.5",
"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": "retained_intron",
"feature": "ENST00000526570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.*590T>C",
"hgvs_p": null,
"transcript": "ENST00000487647.5",
"protein_id": "ENSP00000435254.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000487647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.178-2605T>C",
"hgvs_p": null,
"transcript": "ENST00000530701.1",
"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": "ENST00000530701.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000683765.1",
"protein_id": "ENSP00000507039.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 892,
"cds_start": 893,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683765.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.992T>C",
"hgvs_p": "p.Ile331Thr",
"transcript": "NM_001174067.2",
"protein_id": "NP_001167538.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 853,
"cds_start": 992,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174067.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "NM_001354367.2",
"protein_id": "NP_001341296.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 830,
"cds_start": 893,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354367.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "NM_001354369.2",
"protein_id": "NP_001341298.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 828,
"cds_start": 893,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354369.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000341462.9",
"protein_id": "ENSP00000340636.7",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 828,
"cds_start": 893,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341462.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Ile298Thr",
"transcript": "ENST00000703405.1",
"protein_id": "ENSP00000515291.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 822,
"cds_start": 893,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703405.1"
},
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"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.*137T>C",
"hgvs_p": null,
"transcript": "ENST00000532386.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000532386.5"
}
],
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"dbsnp": "rs121909633",
"frequency_reference_population": 0.0005309184,
"hom_count_reference_population": 0,
"allele_count_reference_population": 857,
"gnomad_exomes_af": 0.000545867,
"gnomad_genomes_af": 0.000387419,
"gnomad_exomes_ac": 798,
"gnomad_genomes_ac": 59,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.061566829681396484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.639,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 9,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001174067.2",
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.992T>C",
"hgvs_p": "p.Ile331Thr"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000528407.1",
"gene_symbol": "ENSG00000255201",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.388-1404A>G",
"hgvs_p": null
}
],
"clinvar_disease": "7 conditions,FGFR1-related disorder,Hypogonadotropic hypogonadism 2 with or without anosmia,Pfeiffer syndrome,Trigonocephaly 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:4",
"phenotype_combined": "Trigonocephaly 1|not specified|not provided|7 conditions|Hypogonadotropic hypogonadism 2 with or without anosmia;Pfeiffer syndrome|FGFR1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}