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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: 19-4099259-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4099259&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4099259,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_030662.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "NM_030662.4",
"protein_id": "NP_109587.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 400,
"cds_start": 861,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": "ENST00000262948.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030662.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "ENST00000262948.10",
"protein_id": "ENSP00000262948.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 400,
"cds_start": 861,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": "NM_030662.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262948.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "ENST00000945862.1",
"protein_id": "ENSP00000615921.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 463,
"cds_start": 861,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945862.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "ENST00000897166.1",
"protein_id": "ENSP00000567225.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 453,
"cds_start": 861,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897166.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Glu337Glu",
"transcript": "ENST00000897161.1",
"protein_id": "ENSP00000567220.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 450,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897161.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "ENST00000945861.1",
"protein_id": "ENSP00000615920.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 447,
"cds_start": 861,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945861.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Glu314Glu",
"transcript": "ENST00000945859.1",
"protein_id": "ENSP00000615918.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 427,
"cds_start": 942,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945859.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Glu306Glu",
"transcript": "ENST00000897160.1",
"protein_id": "ENSP00000567219.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 419,
"cds_start": 918,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897160.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.900A>G",
"hgvs_p": "p.Glu300Glu",
"transcript": "ENST00000920059.1",
"protein_id": "ENSP00000590118.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 413,
"cds_start": 900,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920059.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.846A>G",
"hgvs_p": "p.Glu282Glu",
"transcript": "ENST00000920057.1",
"protein_id": "ENSP00000590116.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 395,
"cds_start": 846,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920057.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.825A>G",
"hgvs_p": "p.Glu275Glu",
"transcript": "ENST00000897162.1",
"protein_id": "ENSP00000567221.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 388,
"cds_start": 825,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897162.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "ENST00000920058.1",
"protein_id": "ENSP00000590117.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 385,
"cds_start": 861,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920058.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.798A>G",
"hgvs_p": "p.Glu266Glu",
"transcript": "ENST00000897163.1",
"protein_id": "ENSP00000567222.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 379,
"cds_start": 798,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897163.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu",
"transcript": "ENST00000897164.1",
"protein_id": "ENSP00000567223.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 364,
"cds_start": 861,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897164.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.714A>G",
"hgvs_p": "p.Glu238Glu",
"transcript": "ENST00000897165.1",
"protein_id": "ENSP00000567224.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 351,
"cds_start": 714,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897165.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.291A>G",
"hgvs_p": "p.Glu97Glu",
"transcript": "NM_001440689.1",
"protein_id": "NP_001427618.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 210,
"cds_start": 291,
"cds_end": null,
"cds_length": 633,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.705+1760A>G",
"hgvs_p": null,
"transcript": "NM_001440688.1",
"protein_id": "NP_001427617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.642+1823A>G",
"hgvs_p": null,
"transcript": "ENST00000945860.1",
"protein_id": "ENSP00000615919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "c.28+1760A>G",
"hgvs_p": null,
"transcript": "ENST00000599021.1",
"protein_id": "ENSP00000471763.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599021.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.1300A>G",
"hgvs_p": null,
"transcript": "ENST00000394867.9",
"protein_id": null,
"transcript_support_level": 5,
"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": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000394867.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.808A>G",
"hgvs_p": null,
"transcript": "ENST00000593364.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000593364.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K2",
"gene_hgnc_id": 6842,
"hgvs_c": "n.676A>G",
"hgvs_p": null,
"transcript": "ENST00000595715.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 861,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000595715.1"
},
{
"aa_ref": null,
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{
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{
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{
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{
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{
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],
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{
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"downstream_gene_variant"
],
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"gene_symbol": "MAP2K2",
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"hgvs_c": "n.*150A>G",
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"biotype": "pseudogene",
"feature": "ENST00000602167.5"
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],
"gene_symbol": "MAP2K2",
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"dbsnp": "rs1431720692",
"frequency_reference_population": 0.0000013757373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137574,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.434,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_030662.4",
"gene_symbol": "MAP2K2",
"hgnc_id": 6842,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Glu287Glu"
}
],
"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
}