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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: 11-10455403-AGCCAGC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=10455403&ref=AGCCAGC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 10455403,
"ref": "AGCCAGC",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001025389.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-48_-43delCAGCGC",
"hgvs_p": null,
"transcript": "NM_001025389.2",
"protein_id": "NP_001020560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396553.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-48_-43delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000396553.7",
"protein_id": "ENSP00000379801.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001025389.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396553.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-48_-43delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000524866.5",
"protein_id": "ENSP00000433284.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524866.5"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.22+4363_22+4368delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000396554.7",
"protein_id": "ENSP00000379802.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": null,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396554.7"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "n.22+4363_22+4368delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000534047.5",
"protein_id": "ENSP00000433937.1",
"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": "ENST00000534047.5"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.22+4363_22+4368delCAGCGC",
"hgvs_p": null,
"transcript": "NM_000480.3",
"protein_id": "NP_000471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": null,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000480.3"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-5-6109_-5-6104delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902501.1",
"protein_id": "ENSP00000572560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902501.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+5286_-6+5291delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902502.1",
"protein_id": "ENSP00000572561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902502.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+5214_-6+5219delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902503.1",
"protein_id": "ENSP00000572562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902503.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+4891_-6+4896delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902504.1",
"protein_id": "ENSP00000572563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902504.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+4642_-6+4647delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902505.1",
"protein_id": "ENSP00000572564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
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"cds_length": 2304,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902505.1"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+290_-6+295delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902506.1",
"protein_id": "ENSP00000572565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902506.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-5-6109_-5-6104delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000930062.1",
"protein_id": "ENSP00000600121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930062.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+4363_-6+4368delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902507.1",
"protein_id": "ENSP00000572566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902507.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-278+4891_-278+4896delCAGCGC",
"hgvs_p": null,
"transcript": "NM_001172431.2",
"protein_id": "NP_001165902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
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"cds_length": 1827,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172431.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-278+4891_-278+4896delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000444303.6",
"protein_id": "ENSP00000396000.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444303.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+4363_-6+4368delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000902508.1",
"protein_id": "ENSP00000572567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": null,
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"cds_length": 1791,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902508.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+4363_-6+4368delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000968291.1",
"protein_id": "ENSP00000638350.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968291.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-6+4891_-6+4896delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000930063.1",
"protein_id": "ENSP00000600122.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930063.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "c.-5-6109_-5-6104delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000532250.5",
"protein_id": "ENSP00000432707.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532250.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "n.-48_-43delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000529834.5",
"protein_id": "ENSP00000435382.1",
"transcript_support_level": 2,
"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": "ENST00000529834.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "n.-48_-43delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000529834.5",
"protein_id": "ENSP00000435382.1",
"transcript_support_level": 2,
"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": "ENST00000529834.5"
},
{
"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": 3,
"intron_rank": 1,
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"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "n.195+4891_195+4896delCAGCGC",
"hgvs_p": null,
"transcript": "ENST00000529835.6",
"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": "ENST00000529835.6"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"hgvs_c": "n.-50_-45delGCCAGC",
"hgvs_p": null,
"transcript": "ENST00000529834.5",
"protein_id": "ENSP00000435382.1",
"transcript_support_level": 2,
"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": "ENST00000529834.5"
}
],
"gene_symbol": "AMPD3",
"gene_hgnc_id": 470,
"dbsnp": "rs547362583",
"frequency_reference_population": 0.0012341819,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1216,
"gnomad_exomes_af": 0.0013502,
"gnomad_genomes_af": 0.000598456,
"gnomad_exomes_ac": 1125,
"gnomad_genomes_ac": 91,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.276,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001025389.2",
"gene_symbol": "AMPD3",
"hgnc_id": 470,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-48_-43delCAGCGC",
"hgvs_p": null
}
],
"clinvar_disease": "Erythrocyte AMP deaminase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Erythrocyte AMP deaminase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}