← Back to variant description
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: 8-94646201-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=94646201&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 94646201,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017697.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "NM_017697.4",
"protein_id": "NP_060167.2",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 681,
"cds_start": 409,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433389.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017697.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000433389.8",
"protein_id": "ENSP00000405738.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 681,
"cds_start": 409,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017697.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433389.8"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000358397.9",
"protein_id": "ENSP00000351168.5",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 677,
"cds_start": 409,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358397.9"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000423620.6",
"protein_id": "ENSP00000407349.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 659,
"cds_start": 409,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423620.6"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000454170.7",
"protein_id": "ENSP00000402766.3",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 604,
"cds_start": 409,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454170.7"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.4T>A",
"hgvs_p": "p.Phe2Ile",
"transcript": "ENST00000519505.5",
"protein_id": "ENSP00000430118.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 501,
"cds_start": 4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519505.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000853635.1",
"protein_id": "ENSP00000523694.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 680,
"cds_start": 409,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853635.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000918824.1",
"protein_id": "ENSP00000588883.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 680,
"cds_start": 409,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918824.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "NM_001034915.3",
"protein_id": "NP_001030087.2",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 677,
"cds_start": 409,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034915.3"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.400T>A",
"hgvs_p": "p.Phe134Ile",
"transcript": "ENST00000853637.1",
"protein_id": "ENSP00000523696.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 674,
"cds_start": 400,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853637.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000853636.1",
"protein_id": "ENSP00000523695.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 671,
"cds_start": 409,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853636.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "NM_001122826.2",
"protein_id": "NP_001116298.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 659,
"cds_start": 409,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122826.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000853638.1",
"protein_id": "ENSP00000523697.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 644,
"cds_start": 409,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853638.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.280T>A",
"hgvs_p": "p.Phe94Ile",
"transcript": "ENST00000918826.1",
"protein_id": "ENSP00000588885.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 638,
"cds_start": 280,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918826.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "NM_001122825.2",
"protein_id": "NP_001116297.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 608,
"cds_start": 409,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122825.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000646773.1",
"protein_id": "ENSP00000494213.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 608,
"cds_start": 409,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646773.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "NM_001122827.2",
"protein_id": "NP_001116299.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 604,
"cds_start": 409,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122827.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "ENST00000918825.1",
"protein_id": "ENSP00000588884.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 435,
"cds_start": 409,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918825.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "XM_005250991.4",
"protein_id": "XP_005251048.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 663,
"cds_start": 409,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250991.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile",
"transcript": "XM_047421916.1",
"protein_id": "XP_047277872.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 636,
"cds_start": 409,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "n.621T>A",
"hgvs_p": null,
"transcript": "ENST00000520385.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000520385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "n.28T>A",
"hgvs_p": null,
"transcript": "ENST00000522756.6",
"protein_id": "ENSP00000428490.2",
"transcript_support_level": 3,
"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": "ENST00000522756.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "n.151T>A",
"hgvs_p": null,
"transcript": "ENST00000522920.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000522920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"hgvs_c": "c.-15T>A",
"hgvs_p": null,
"transcript": "ENST00000517610.1",
"protein_id": "ENSP00000429125.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517610.1"
}
],
"gene_symbol": "ESRP1",
"gene_hgnc_id": 25966,
"dbsnp": "rs1442230718",
"frequency_reference_population": 0.0000024809033,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205463,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.437924861907959,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.7889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.487,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017697.4",
"gene_symbol": "ESRP1",
"hgnc_id": 25966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.409T>A",
"hgvs_p": "p.Phe137Ile"
}
],
"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
}