← Back to variant description
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: 1-56867638-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=56867638&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 56867638,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000562.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "NM_000562.3",
"protein_id": "NP_000553.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 584,
"cds_start": 107,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361249.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000562.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000361249.4",
"protein_id": "ENSP00000354458.3",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 584,
"cds_start": 107,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000562.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361249.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000695678.1",
"protein_id": "ENSP00000512098.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 584,
"cds_start": 107,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695678.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854265.1",
"protein_id": "ENSP00000524324.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 576,
"cds_start": 107,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854265.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854262.1",
"protein_id": "ENSP00000524321.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 571,
"cds_start": 107,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854262.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000695677.1",
"protein_id": "ENSP00000512097.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 567,
"cds_start": 107,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695677.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854268.1",
"protein_id": "ENSP00000524327.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 563,
"cds_start": 107,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854268.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000695681.1",
"protein_id": "ENSP00000512100.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 561,
"cds_start": 107,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695681.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854267.1",
"protein_id": "ENSP00000524326.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 542,
"cds_start": 107,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854267.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854269.1",
"protein_id": "ENSP00000524328.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 517,
"cds_start": 107,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854269.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854266.1",
"protein_id": "ENSP00000524325.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 504,
"cds_start": 107,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854266.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854264.1",
"protein_id": "ENSP00000524323.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 423,
"cds_start": 107,
"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": "ENST00000854264.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "ENST00000854263.1",
"protein_id": "ENSP00000524322.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 181,
"cds_start": 107,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854263.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "XM_017002234.2",
"protein_id": "XP_016857723.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 381,
"cds_start": 107,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002234.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu",
"transcript": "XM_011542079.3",
"protein_id": "XP_011540381.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 375,
"cds_start": 107,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542079.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "c.18+12719C>A",
"hgvs_p": null,
"transcript": "ENST00000854270.1",
"protein_id": "ENSP00000524329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.241C>A",
"hgvs_p": null,
"transcript": "ENST00000695676.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000695676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.107C>A",
"hgvs_p": null,
"transcript": "ENST00000695679.1",
"protein_id": "ENSP00000512099.1",
"transcript_support_level": null,
"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": "ENST00000695679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.213C>A",
"hgvs_p": null,
"transcript": "ENST00000695680.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000695680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.201C>A",
"hgvs_p": null,
"transcript": "ENST00000695682.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000695682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.191C>A",
"hgvs_p": null,
"transcript": "ENST00000695683.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000695683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000695684.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000695684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000695685.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000695685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"hgvs_c": "n.107C>A",
"hgvs_p": null,
"transcript": "ENST00000695723.1",
"protein_id": "ENSP00000512121.1",
"transcript_support_level": null,
"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": "non_stop_decay",
"feature": "ENST00000695723.1"
}
],
"gene_symbol": "C8A",
"gene_hgnc_id": 1352,
"dbsnp": "rs116201358",
"frequency_reference_population": 0.013699453,
"hom_count_reference_population": 732,
"allele_count_reference_population": 22107,
"gnomad_exomes_af": 0.0142006,
"gnomad_genomes_af": 0.00889035,
"gnomad_exomes_ac": 20753,
"gnomad_genomes_ac": 1354,
"gnomad_exomes_homalt": 680,
"gnomad_genomes_homalt": 52,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002475142478942871,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.386,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1443,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.351,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000562.3",
"gene_symbol": "C8A",
"hgnc_id": 1352,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Glu"
}
],
"clinvar_disease": "Type I complement component 8 deficiency,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Type I complement component 8 deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}