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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: 5-134138065-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134138065&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134138065,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001346425.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "NM_003202.5",
"protein_id": "NP_003193.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 384,
"cds_start": 448,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342854.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003202.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "ENST00000342854.10",
"protein_id": "ENSP00000340347.5",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 384,
"cds_start": 448,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003202.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342854.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000395023.5",
"protein_id": "ENSP00000378469.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 269,
"cds_start": 103,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395023.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000518915.5",
"protein_id": "ENSP00000430179.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 269,
"cds_start": 103,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518915.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000378560.8",
"protein_id": "ENSP00000367822.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 268,
"cds_start": 103,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378560.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "ENST00000395029.5",
"protein_id": "ENSP00000378472.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 481,
"cds_start": 448,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395029.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "NM_001346425.2",
"protein_id": "NP_001333354.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 415,
"cds_start": 448,
"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": "NM_001346425.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "ENST00000851078.1",
"protein_id": "ENSP00000521137.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 365,
"cds_start": 448,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851078.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000522375.6",
"protein_id": "ENSP00000427870.2",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 300,
"cds_start": 103,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522375.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001346450.2",
"protein_id": "NP_001333379.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 281,
"cds_start": 103,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346450.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_001134851.4",
"protein_id": "NP_001128323.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 269,
"cds_start": 103,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134851.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_201632.5",
"protein_id": "NP_963963.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 269,
"cds_start": 103,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201632.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_213648.5",
"protein_id": "NP_998813.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 269,
"cds_start": 103,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213648.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000520958.5",
"protein_id": "ENSP00000429547.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 269,
"cds_start": 103,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520958.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "NM_201634.5",
"protein_id": "NP_963965.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 268,
"cds_start": 103,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201634.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Ala10Thr",
"transcript": "NM_001366502.2",
"protein_id": "NP_001353431.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 244,
"cds_start": 28,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366502.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000517851.5",
"protein_id": "ENSP00000429946.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 166,
"cds_start": 103,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517851.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000521639.5",
"protein_id": "ENSP00000427782.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 146,
"cds_start": 103,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521639.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Ala10Thr",
"transcript": "ENST00000519037.5",
"protein_id": "ENSP00000429696.1",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 142,
"cds_start": 28,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519037.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Ala35Thr",
"transcript": "ENST00000518887.5",
"protein_id": "ENSP00000430617.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 121,
"cds_start": 103,
"cds_end": null,
"cds_length": 368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518887.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "XM_006714678.4",
"protein_id": "XP_006714741.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 460,
"cds_start": 448,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714678.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr",
"transcript": "XM_006714679.4",
"protein_id": "XP_006714742.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 429,
"cds_start": 448,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714679.4"
},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "n.481G>A",
"hgvs_p": null,
"transcript": "NR_033449.3",
"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_033449.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"hgvs_c": "n.-39G>A",
"hgvs_p": null,
"transcript": "ENST00000517478.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000517478.1"
}
],
"gene_symbol": "TCF7",
"gene_hgnc_id": 11639,
"dbsnp": "rs375582645",
"frequency_reference_population": 0.0000037545149,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000345737,
"gnomad_genomes_af": 0.00000658363,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13823556900024414,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0639,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.202,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001346425.2",
"gene_symbol": "TCF7",
"hgnc_id": 11639,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Ala150Thr"
}
],
"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
}