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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: 1-155289532-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155289532&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155289532,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000368358.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "NM_020897.3",
"protein_id": "NP_065948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": -4,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": "ENST00000368358.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "ENST00000368358.4",
"protein_id": "ENSP00000357342.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": -4,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": "NM_020897.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKLR",
"gene_hgnc_id": 9020,
"hgvs_c": "c.*1040G>A",
"hgvs_p": null,
"transcript": "NM_000298.6",
"protein_id": "NP_000289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": -4,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": "ENST00000342741.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKLR",
"gene_hgnc_id": 9020,
"hgvs_c": "c.*1040G>A",
"hgvs_p": null,
"transcript": "ENST00000342741.6",
"protein_id": "ENSP00000339933.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": -4,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": "NM_000298.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.2930C>T",
"hgvs_p": null,
"transcript": "ENST00000496230.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.3389C>T",
"hgvs_p": null,
"transcript": "NR_073074.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.2940C>T",
"hgvs_p": null,
"transcript": "XR_007062431.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.3860C>T",
"hgvs_p": null,
"transcript": "XR_007062432.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.3759C>T",
"hgvs_p": null,
"transcript": "XR_007062433.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.2677C>T",
"hgvs_p": null,
"transcript": "XR_007062434.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.3596C>T",
"hgvs_p": null,
"transcript": "XR_007062435.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.3323C>T",
"hgvs_p": null,
"transcript": "XR_921903.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.3139C>T",
"hgvs_p": null,
"transcript": "XR_921904.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.2839C>T",
"hgvs_p": null,
"transcript": "XR_921905.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PKLR",
"gene_hgnc_id": 9020,
"hgvs_c": "c.*1040G>A",
"hgvs_p": null,
"transcript": "NM_181871.4",
"protein_id": "NP_870986.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "XM_011509816.4",
"protein_id": "XP_011508118.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "XM_011509817.3",
"protein_id": "XP_011508119.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "XM_047426226.1",
"protein_id": "XP_047282182.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKLR",
"gene_hgnc_id": 9020,
"hgvs_c": "c.*1040G>A",
"hgvs_p": null,
"transcript": "XM_047422591.1",
"protein_id": "XP_047278547.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PKLR",
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"hgvs_c": "c.*1040G>A",
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"transcript": "XM_047422592.1",
"protein_id": "XP_047278548.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "XM_011509818.2",
"protein_id": "XP_011508120.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "c.*1069C>T",
"hgvs_p": null,
"transcript": "XM_017001918.2",
"protein_id": "XP_016857407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
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"cds_length": 1608,
"cdna_start": null,
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"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKLR",
"gene_hgnc_id": 9020,
"hgvs_c": "c.*1040G>A",
"hgvs_p": null,
"transcript": "XM_006711386.5",
"protein_id": "XP_006711449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2905,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKLR",
"gene_hgnc_id": 9020,
"hgvs_c": "c.*1040G>A",
"hgvs_p": null,
"transcript": "XM_011509640.4",
"protein_id": "XP_011507942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"hgvs_c": "n.*14C>T",
"hgvs_p": null,
"transcript": "ENST00000492035.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HCN3",
"gene_hgnc_id": 19183,
"dbsnp": "rs8847",
"frequency_reference_population": 0.3515585,
"hom_count_reference_population": 10493,
"allele_count_reference_population": 53484,
"gnomad_exomes_af": 0.286325,
"gnomad_genomes_af": 0.351659,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 53417,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 10479,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.536,
"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": -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": "ENST00000368358.4",
"gene_symbol": "HCN3",
"hgnc_id": 19183,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1069C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000342741.6",
"gene_symbol": "PKLR",
"hgnc_id": 9020,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*1040G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Pyruvate kinase deficiency of red cells,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Pyruvate kinase deficiency of red cells|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}