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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: 17-18867299-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18867299&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18867299,
"ref": "T",
"alt": "A",
"effect": "start_lost",
"transcript": "NM_001353096.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "NM_002767.4",
"protein_id": "NP_002758.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268835.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002767.4"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000268835.7",
"protein_id": "ENSP00000268835.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002767.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268835.7"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000542013.5",
"protein_id": "ENSP00000439129.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 320,
"cds_start": 137,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542013.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.-87+1347T>A",
"hgvs_p": null,
"transcript": "ENST00000610773.4",
"protein_id": "ENSP00000481322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610773.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "n.119+1347T>A",
"hgvs_p": null,
"transcript": "ENST00000492129.5",
"protein_id": "ENSP00000459727.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000492129.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001353096.1",
"protein_id": "NP_001340025.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 324,
"cds_start": 2,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353096.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001353097.2",
"protein_id": "NP_001340026.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 324,
"cds_start": 2,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353097.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001353099.2",
"protein_id": "NP_001340028.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 324,
"cds_start": 2,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353099.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.299T>A",
"hgvs_p": "p.Met100Lys",
"transcript": "NM_001353098.2",
"protein_id": "NP_001340027.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 423,
"cds_start": 299,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353098.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000939042.1",
"protein_id": "ENSP00000609101.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 410,
"cds_start": 137,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939042.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000955001.1",
"protein_id": "ENSP00000625060.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 410,
"cds_start": 137,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955001.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000954998.1",
"protein_id": "ENSP00000625057.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 394,
"cds_start": 137,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954998.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "NM_001353101.2",
"protein_id": "NP_001340030.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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_001353101.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "NM_001353102.2",
"protein_id": "NP_001340031.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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_001353102.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "NM_001353105.2",
"protein_id": "NP_001340034.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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_001353105.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "NM_001353106.2",
"protein_id": "NP_001340035.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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_001353106.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "NM_001353107.2",
"protein_id": "NP_001340036.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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_001353107.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000869446.1",
"protein_id": "ENSP00000539505.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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": "ENST00000869446.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000869447.1",
"protein_id": "ENSP00000539506.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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": "ENST00000869447.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000869448.1",
"protein_id": "ENSP00000539507.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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": "ENST00000869448.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000869449.1",
"protein_id": "ENSP00000539508.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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": "ENST00000869449.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.137T>A",
"hgvs_p": "p.Met46Lys",
"transcript": "ENST00000869450.1",
"protein_id": "ENSP00000539509.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 369,
"cds_start": 137,
"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": "ENST00000869450.1"
},
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"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "n.378+1347T>A",
"hgvs_p": null,
"transcript": "ENST00000573432.5",
"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": "ENST00000573432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"hgvs_c": "c.*18T>A",
"hgvs_p": null,
"transcript": "ENST00000628609.1",
"protein_id": "ENSP00000487485.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628609.1"
}
],
"gene_symbol": "PRPSAP2",
"gene_hgnc_id": 9467,
"dbsnp": "rs376920336",
"frequency_reference_population": 0.000002052166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205217,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6944219470024109,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.775,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.399,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting,PM2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PVS1_Supporting",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353096.1",
"gene_symbol": "PRPSAP2",
"hgnc_id": 9467,
"effects": [
"start_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?"
}
],
"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
}