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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: 6-32182579-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32182579&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32182579,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206929.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.811T>A",
"hgvs_p": "p.Trp271Arg",
"transcript": "NM_001136.5",
"protein_id": "NP_001127.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 404,
"cds_start": 811,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375076.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.811T>A",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000375076.9",
"protein_id": "ENSP00000364217.4",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 404,
"cds_start": 811,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375076.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.859T>A",
"hgvs_p": "p.Trp287Arg",
"transcript": "ENST00000375069.7",
"protein_id": "ENSP00000364210.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 420,
"cds_start": 859,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375069.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.859T>A",
"hgvs_p": "p.Trp287Arg",
"transcript": "ENST00000438221.6",
"protein_id": "ENSP00000387887.2",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 363,
"cds_start": 859,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438221.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.811T>A",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000375055.6",
"protein_id": "ENSP00000364195.2",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 811,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375055.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.769T>A",
"hgvs_p": "p.Trp257Arg",
"transcript": "ENST00000375067.7",
"protein_id": "ENSP00000364208.3",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 342,
"cds_start": 769,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375067.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.353T>A",
"hgvs_p": null,
"transcript": "ENST00000473619.5",
"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": "ENST00000473619.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.1018T>A",
"hgvs_p": null,
"transcript": "ENST00000484849.5",
"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": "ENST00000484849.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.353T>A",
"hgvs_p": null,
"transcript": "ENST00000488669.5",
"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": "ENST00000488669.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.859T>A",
"hgvs_p": "p.Trp287Arg",
"transcript": "NM_001206929.2",
"protein_id": "NP_001193858.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 420,
"cds_start": 859,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206929.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.853T>A",
"hgvs_p": "p.Trp285Arg",
"transcript": "ENST00000851471.1",
"protein_id": "ENSP00000521530.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 418,
"cds_start": 853,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851471.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.850T>A",
"hgvs_p": "p.Trp284Arg",
"transcript": "ENST00000966081.1",
"protein_id": "ENSP00000636140.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 417,
"cds_start": 850,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966081.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.811T>A",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000851466.1",
"protein_id": "ENSP00000521525.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 416,
"cds_start": 811,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851466.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.844T>A",
"hgvs_p": "p.Trp282Arg",
"transcript": "ENST00000966077.1",
"protein_id": "ENSP00000636136.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 415,
"cds_start": 844,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966077.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.841T>A",
"hgvs_p": "p.Trp281Arg",
"transcript": "ENST00000851480.1",
"protein_id": "ENSP00000521539.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 414,
"cds_start": 841,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851480.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.811T>A",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000966078.1",
"protein_id": "ENSP00000636137.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 412,
"cds_start": 811,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966078.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.817T>A",
"hgvs_p": "p.Trp273Arg",
"transcript": "ENST00000851470.1",
"protein_id": "ENSP00000521529.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 406,
"cds_start": 817,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851470.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.808T>A",
"hgvs_p": "p.Trp270Arg",
"transcript": "ENST00000851475.1",
"protein_id": "ENSP00000521534.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 403,
"cds_start": 808,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851475.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.805T>A",
"hgvs_p": "p.Trp269Arg",
"transcript": "ENST00000851463.1",
"protein_id": "ENSP00000521522.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 402,
"cds_start": 805,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851463.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.811T>A",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000966076.1",
"protein_id": "ENSP00000636135.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 402,
"cds_start": 811,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966076.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.802T>A",
"hgvs_p": "p.Trp268Arg",
"transcript": "ENST00000851468.1",
"protein_id": "ENSP00000521527.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 401,
"cds_start": 802,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851468.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.799T>A",
"hgvs_p": "p.Trp267Arg",
"transcript": "ENST00000851478.1",
"protein_id": "ENSP00000521537.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 400,
"cds_start": 799,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851478.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
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"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.691+262T>A",
"hgvs_p": null,
"transcript": "ENST00000966080.1",
"protein_id": "ENSP00000636139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966080.1"
},
{
"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": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.1025T>A",
"hgvs_p": null,
"transcript": "NR_038190.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_038190.2"
}
],
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"dbsnp": "rs140930365",
"frequency_reference_population": 0.0010564598,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1704,
"gnomad_exomes_af": 0.00100906,
"gnomad_genomes_af": 0.00151155,
"gnomad_exomes_ac": 1474,
"gnomad_genomes_ac": 230,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007397860288619995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.497,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9683,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.861,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001206929.2",
"gene_symbol": "AGER",
"hgnc_id": 320,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.859T>A",
"hgvs_p": "p.Trp287Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}