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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: 3-12590854-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12590854&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12590854,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001354689.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002880.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251849.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "n.1125C>G",
"hgvs_p": null,
"transcript": "ENST00000494557.2",
"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": "ENST00000494557.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1374C>G",
"hgvs_p": "p.Thr458Thr",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 668,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354689.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1374C>G",
"hgvs_p": "p.Thr458Thr",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 668,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442415.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1374C>G",
"hgvs_p": "p.Thr458Thr",
"transcript": "ENST00000900382.1",
"protein_id": "ENSP00000570441.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 668,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900382.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1374C>G",
"hgvs_p": "p.Thr458Thr",
"transcript": "ENST00000941486.1",
"protein_id": "ENSP00000611545.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 668,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941486.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354690.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685653.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691899.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000900375.1",
"protein_id": "ENSP00000570434.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900375.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000900377.1",
"protein_id": "ENSP00000570436.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900377.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000900381.1",
"protein_id": "ENSP00000570440.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900381.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000900383.1",
"protein_id": "ENSP00000570442.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900383.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941484.1",
"protein_id": "ENSP00000611543.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941484.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941488.1",
"protein_id": "ENSP00000611547.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941488.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941490.1",
"protein_id": "ENSP00000611549.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941490.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941491.1",
"protein_id": "ENSP00000611550.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941491.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941492.1",
"protein_id": "ENSP00000611551.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941492.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941494.1",
"protein_id": "ENSP00000611553.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941494.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941495.1",
"protein_id": "ENSP00000611554.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941495.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>G",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000941496.1",
"protein_id": "ENSP00000611555.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"transcript": "ENST00000693069.1",
"protein_id": "ENSP00000510072.1",
"transcript_support_level": null,
"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": "ENST00000693069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "n.*991C>G",
"hgvs_p": null,
"transcript": "ENST00000693705.1",
"protein_id": "ENSP00000510697.1",
"transcript_support_level": null,
"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": "ENST00000693705.1"
}
],
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"dbsnp": "rs147547744",
"frequency_reference_population": 6.841527e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84153e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.58,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001354689.3",
"gene_symbol": "RAF1",
"hgnc_id": 9829,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1374C>G",
"hgvs_p": "p.Thr458Thr"
}
],
"clinvar_disease": "RASopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "RASopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}