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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: 4-73576675-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73576675&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73576675,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_201431.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "NM_177532.5",
"protein_id": "NP_803876.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": "ENST00000307439.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177532.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "ENST00000307439.10",
"protein_id": "ENSP00000303877.5",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": "NM_177532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307439.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.742C>A",
"hgvs_p": "p.Pro248Thr",
"transcript": "ENST00000335049.5",
"protein_id": "ENSP00000335582.5",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 325,
"cds_start": 742,
"cds_end": null,
"cds_length": 978,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335049.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.676C>A",
"hgvs_p": "p.Pro226Thr",
"transcript": "ENST00000395777.6",
"protein_id": "ENSP00000379123.2",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 303,
"cds_start": 676,
"cds_end": null,
"cds_length": 912,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395777.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Pro292Thr",
"transcript": "NM_201431.2",
"protein_id": "NP_958834.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 369,
"cds_start": 874,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 5926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201431.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Pro292Thr",
"transcript": "ENST00000342081.7",
"protein_id": "ENSP00000340578.3",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 369,
"cds_start": 874,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342081.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Pro275Thr",
"transcript": "ENST00000961593.1",
"protein_id": "ENSP00000631652.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 352,
"cds_start": 823,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961593.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "ENST00000853549.1",
"protein_id": "ENSP00000523608.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853549.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "ENST00000853550.1",
"protein_id": "ENSP00000523609.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853550.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "ENST00000961592.1",
"protein_id": "ENSP00000631651.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961592.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "ENST00000961596.1",
"protein_id": "ENSP00000631655.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961596.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.742C>A",
"hgvs_p": "p.Pro248Thr",
"transcript": "NM_001270392.1",
"protein_id": "NP_001257321.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 325,
"cds_start": 742,
"cds_end": null,
"cds_length": 978,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270392.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.676C>A",
"hgvs_p": "p.Pro226Thr",
"transcript": "NM_001270391.2",
"protein_id": "NP_001257320.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 303,
"cds_start": 676,
"cds_end": null,
"cds_length": 912,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270391.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.676C>A",
"hgvs_p": "p.Pro226Thr",
"transcript": "ENST00000853548.1",
"protein_id": "ENSP00000523607.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 303,
"cds_start": 676,
"cds_end": null,
"cds_length": 912,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853548.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.676C>A",
"hgvs_p": "p.Pro226Thr",
"transcript": "ENST00000961594.1",
"protein_id": "ENSP00000631653.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 303,
"cds_start": 676,
"cds_end": null,
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"cdna_start": 1144,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961594.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.676C>A",
"hgvs_p": "p.Pro226Thr",
"transcript": "ENST00000961595.1",
"protein_id": "ENSP00000631654.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 303,
"cds_start": 676,
"cds_end": null,
"cds_length": 912,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961595.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Pro292Thr",
"transcript": "XM_011531687.3",
"protein_id": "XP_011529989.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 354,
"cds_start": 874,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 5834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531687.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "XM_011531688.2",
"protein_id": "XP_011529990.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
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"cdna_start": 1075,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531688.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"transcript": "XM_047449709.1",
"protein_id": "XP_047305665.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 337,
"cds_start": 778,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1119,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449709.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.772C>A",
"hgvs_p": "p.Pro258Thr",
"transcript": "XM_011531689.4",
"protein_id": "XP_011529991.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 335,
"cds_start": 772,
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"cdna_start": 903,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531689.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.604C>A",
"hgvs_p": "p.Pro202Thr",
"transcript": "XM_011531690.3",
"protein_id": "XP_011529992.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 279,
"cds_start": 604,
"cds_end": null,
"cds_length": 840,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 8548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531690.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.604C>A",
"hgvs_p": "p.Pro202Thr",
"transcript": "XM_047449710.1",
"protein_id": "XP_047305666.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 279,
"cds_start": 604,
"cds_end": null,
"cds_length": 840,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449710.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.502C>A",
"hgvs_p": "p.Pro168Thr",
"transcript": "XM_047449711.1",
"protein_id": "XP_047305667.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 245,
"cds_start": 502,
"cds_end": null,
"cds_length": 738,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449711.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.490C>A",
"hgvs_p": "p.Pro164Thr",
"transcript": "XM_017007837.3",
"protein_id": "XP_016863326.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 241,
"cds_start": 490,
"cds_end": null,
"cds_length": 726,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 7899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007837.3"
}
],
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"dbsnp": "rs752839642",
"frequency_reference_population": 0.000017351944,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000109476,
"gnomad_genomes_af": 0.0000788747,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8973286151885986,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.604,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.089,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_201431.2",
"gene_symbol": "RASSF6",
"hgnc_id": 20796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Pro292Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}