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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: 2-159729106-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159729106&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159729106,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022826.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001282805.2",
"protein_id": "NP_001269734.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": "ENST00000409175.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282805.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000409175.6",
"protein_id": "ENSP00000386830.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": "NM_001282805.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409175.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000259050.8",
"protein_id": "ENSP00000259050.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259050.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000966712.1",
"protein_id": "ENSP00000636771.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 739,
"cds_start": 84,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966712.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000914861.1",
"protein_id": "ENSP00000584920.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 713,
"cds_start": 84,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914861.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000966711.1",
"protein_id": "ENSP00000636770.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 713,
"cds_start": 84,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966711.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376234.1",
"protein_id": "NP_001363163.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376234.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376235.1",
"protein_id": "NP_001363164.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376235.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376236.1",
"protein_id": "NP_001363165.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376236.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376237.1",
"protein_id": "NP_001363166.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376237.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376238.1",
"protein_id": "NP_001363167.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376238.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376239.1",
"protein_id": "NP_001363168.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376239.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376240.1",
"protein_id": "NP_001363169.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376240.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376241.1",
"protein_id": "NP_001363170.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
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"cdna_start": 419,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376241.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_001376242.1",
"protein_id": "NP_001363171.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
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"cdna_start": 377,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376242.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "NM_022826.4",
"protein_id": "NP_073737.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022826.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000856569.1",
"protein_id": "ENSP00000526628.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856569.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000856570.1",
"protein_id": "ENSP00000526629.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
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"cdna_start": 604,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856570.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000856571.1",
"protein_id": "ENSP00000526630.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
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"cdna_start": 271,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856571.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000856572.1",
"protein_id": "ENSP00000526631.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
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"cdna_start": 679,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856572.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000856573.1",
"protein_id": "ENSP00000526632.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856573.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg",
"transcript": "ENST00000856574.1",
"protein_id": "ENSP00000526633.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 704,
"cds_start": 84,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
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{
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{
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},
{
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],
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{
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"non_coding_transcript_exon_variant"
],
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},
{
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"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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],
"gene_symbol": "MARCHF7",
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"dbsnp": "rs140055725",
"frequency_reference_population": 0.00032216334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 519,
"gnomad_exomes_af": 0.000339985,
"gnomad_genomes_af": 0.000151218,
"gnomad_exomes_ac": 496,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03959885239601135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.5546,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.666,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022826.4",
"gene_symbol": "MARCHF7",
"hgnc_id": 17393,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.84C>A",
"hgvs_p": "p.Ser28Arg"
}
],
"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
}