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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: 4-73576650-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73576650&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73576650,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_201431.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "NM_177532.5",
"protein_id": "NP_803876.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307439.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177532.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "ENST00000307439.10",
"protein_id": "ENSP00000303877.5",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307439.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.767T>C",
"hgvs_p": "p.Phe256Ser",
"transcript": "ENST00000335049.5",
"protein_id": "ENSP00000335582.5",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 325,
"cds_start": 767,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335049.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.701T>C",
"hgvs_p": "p.Phe234Ser",
"transcript": "ENST00000395777.6",
"protein_id": "ENSP00000379123.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 303,
"cds_start": 701,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395777.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.899T>C",
"hgvs_p": "p.Phe300Ser",
"transcript": "NM_201431.2",
"protein_id": "NP_958834.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 369,
"cds_start": 899,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201431.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.899T>C",
"hgvs_p": "p.Phe300Ser",
"transcript": "ENST00000342081.7",
"protein_id": "ENSP00000340578.3",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 369,
"cds_start": 899,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342081.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.848T>C",
"hgvs_p": "p.Phe283Ser",
"transcript": "ENST00000961593.1",
"protein_id": "ENSP00000631652.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 352,
"cds_start": 848,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961593.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "ENST00000853549.1",
"protein_id": "ENSP00000523608.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853549.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "ENST00000853550.1",
"protein_id": "ENSP00000523609.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853550.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "ENST00000961592.1",
"protein_id": "ENSP00000631651.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961592.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "ENST00000961596.1",
"protein_id": "ENSP00000631655.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961596.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.767T>C",
"hgvs_p": "p.Phe256Ser",
"transcript": "NM_001270392.1",
"protein_id": "NP_001257321.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 325,
"cds_start": 767,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270392.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.701T>C",
"hgvs_p": "p.Phe234Ser",
"transcript": "NM_001270391.2",
"protein_id": "NP_001257320.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 303,
"cds_start": 701,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270391.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.701T>C",
"hgvs_p": "p.Phe234Ser",
"transcript": "ENST00000853548.1",
"protein_id": "ENSP00000523607.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 303,
"cds_start": 701,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853548.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.701T>C",
"hgvs_p": "p.Phe234Ser",
"transcript": "ENST00000961594.1",
"protein_id": "ENSP00000631653.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 303,
"cds_start": 701,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961594.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.701T>C",
"hgvs_p": "p.Phe234Ser",
"transcript": "ENST00000961595.1",
"protein_id": "ENSP00000631654.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 303,
"cds_start": 701,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961595.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.899T>C",
"hgvs_p": "p.Phe300Ser",
"transcript": "XM_011531687.3",
"protein_id": "XP_011529989.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 354,
"cds_start": 899,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531687.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "XM_011531688.2",
"protein_id": "XP_011529990.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531688.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.803T>C",
"hgvs_p": "p.Phe268Ser",
"transcript": "XM_047449709.1",
"protein_id": "XP_047305665.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 337,
"cds_start": 803,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449709.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.797T>C",
"hgvs_p": "p.Phe266Ser",
"transcript": "XM_011531689.4",
"protein_id": "XP_011529991.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 335,
"cds_start": 797,
"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": "XM_011531689.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.629T>C",
"hgvs_p": "p.Phe210Ser",
"transcript": "XM_011531690.3",
"protein_id": "XP_011529992.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 279,
"cds_start": 629,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531690.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.629T>C",
"hgvs_p": "p.Phe210Ser",
"transcript": "XM_047449710.1",
"protein_id": "XP_047305666.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 279,
"cds_start": 629,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449710.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.527T>C",
"hgvs_p": "p.Phe176Ser",
"transcript": "XM_047449711.1",
"protein_id": "XP_047305667.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 245,
"cds_start": 527,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449711.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"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.515T>C",
"hgvs_p": "p.Phe172Ser",
"transcript": "XM_017007837.3",
"protein_id": "XP_016863326.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 241,
"cds_start": 515,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007837.3"
}
],
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"dbsnp": "rs762751180",
"frequency_reference_population": 0.00012891278,
"hom_count_reference_population": 0,
"allele_count_reference_population": 208,
"gnomad_exomes_af": 0.000136865,
"gnomad_genomes_af": 0.000052561,
"gnomad_exomes_ac": 200,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9032294154167175,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.58,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.546,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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.899T>C",
"hgvs_p": "p.Phe300Ser"
}
],
"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
}