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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: 6-161048742-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=161048742&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 161048742,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005922.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "NM_005922.4",
"protein_id": "NP_005913.3",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1608,
"cds_start": 470,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392142.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005922.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000392142.9",
"protein_id": "ENSP00000375986.4",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 1608,
"cds_start": 470,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005922.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392142.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000366919.6",
"protein_id": "ENSP00000355886.2",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 1558,
"cds_start": 470,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366919.6"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "n.470G>A",
"hgvs_p": null,
"transcript": "ENST00000490904.6",
"protein_id": "ENSP00000446303.1",
"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": "ENST00000490904.6"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "n.470G>A",
"hgvs_p": null,
"transcript": "ENST00000544041.5",
"protein_id": "ENSP00000445018.1",
"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": "ENST00000544041.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "NM_001301072.2",
"protein_id": "NP_001288001.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1604,
"cds_start": 470,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301072.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000366920.6",
"protein_id": "ENSP00000355887.2",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 1604,
"cds_start": 470,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366920.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000922281.1",
"protein_id": "ENSP00000592340.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1578,
"cds_start": 470,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922281.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000946146.1",
"protein_id": "ENSP00000616205.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1570,
"cds_start": 470,
"cds_end": null,
"cds_length": 4713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946146.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "NM_006724.4",
"protein_id": "NP_006715.3",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1558,
"cds_start": 470,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006724.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000922279.1",
"protein_id": "ENSP00000592338.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1558,
"cds_start": 470,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922279.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "NM_001363582.2",
"protein_id": "NP_001350511.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1554,
"cds_start": 470,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363582.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000348824.11",
"protein_id": "ENSP00000297332.10",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 1554,
"cds_start": 470,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348824.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000922280.1",
"protein_id": "ENSP00000592339.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1554,
"cds_start": 470,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922280.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000946145.1",
"protein_id": "ENSP00000616204.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1508,
"cds_start": 470,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946145.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000946149.1",
"protein_id": "ENSP00000616208.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1504,
"cds_start": 470,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946149.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "XM_047418783.1",
"protein_id": "XP_047274739.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1445,
"cds_start": 470,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.-1270G>A",
"hgvs_p": null,
"transcript": "NM_001291958.2",
"protein_id": "NP_001278887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": null,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291958.2"
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.343+14293G>A",
"hgvs_p": null,
"transcript": "ENST00000875639.1",
"protein_id": "ENSP00000545698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875639.1"
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.343+14293G>A",
"hgvs_p": null,
"transcript": "ENST00000946147.1",
"protein_id": "ENSP00000616206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946147.1"
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "c.343+14293G>A",
"hgvs_p": null,
"transcript": "ENST00000946148.1",
"protein_id": "ENSP00000616207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": null,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946148.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K4",
"gene_hgnc_id": 6856,
"hgvs_c": "n.265G>A",
"hgvs_p": null,
"transcript": "ENST00000446500.1",
"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": "pseudogene",
"feature": "ENST00000446500.1"
},
{
"aa_ref": null,
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"protein_coding": false,
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"non_coding_transcript_exon_variant"
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"gene_symbol": "MAP3K4",
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "MAP3K4",
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"hgvs_c": "n.153-21866G>A",
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"transcript": "ENST00000542952.5",
"protein_id": "ENSP00000439377.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000542952.5"
}
],
"gene_symbol": "MAP3K4",
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"dbsnp": "rs4559074",
"frequency_reference_population": 0.9578112,
"hom_count_reference_population": 740608,
"allele_count_reference_population": 1545936,
"gnomad_exomes_af": 0.956904,
"gnomad_genomes_af": 0.966526,
"gnomad_exomes_ac": 1398794,
"gnomad_genomes_ac": 147142,
"gnomad_exomes_homalt": 669466,
"gnomad_genomes_homalt": 71142,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 8.183123441085627e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.0527,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.808,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005922.4",
"gene_symbol": "MAP3K4",
"hgnc_id": 6856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}