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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: 3-44775361-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=44775361&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 44775361,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020242.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "NM_020242.3",
"protein_id": "NP_064627.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1388,
"cds_start": 170,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326047.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020242.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000326047.9",
"protein_id": "ENSP00000324020.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 1388,
"cds_start": 170,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020242.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326047.9"
},
{
"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": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "n.127C>T",
"hgvs_p": null,
"transcript": "ENST00000438321.5",
"protein_id": "ENSP00000406939.1",
"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": "ENST00000438321.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44*",
"transcript": "XM_017006885.3",
"protein_id": "XP_016862374.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1372,
"cds_start": 130,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006885.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917498.1",
"protein_id": "ENSP00000587557.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1412,
"cds_start": 170,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917498.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917495.1",
"protein_id": "ENSP00000587554.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1411,
"cds_start": 170,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917495.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917497.1",
"protein_id": "ENSP00000587556.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1394,
"cds_start": 170,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917497.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917499.1",
"protein_id": "ENSP00000587558.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1363,
"cds_start": 170,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917499.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917501.1",
"protein_id": "ENSP00000587560.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1354,
"cds_start": 170,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917501.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917496.1",
"protein_id": "ENSP00000587555.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1322,
"cds_start": 170,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917496.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917500.1",
"protein_id": "ENSP00000587559.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1321,
"cds_start": 170,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917500.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "ENST00000917502.1",
"protein_id": "ENSP00000587561.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1297,
"cds_start": 170,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917502.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "XM_017006884.3",
"protein_id": "XP_016862373.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1411,
"cds_start": 170,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006884.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "XM_011533964.4",
"protein_id": "XP_011532266.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1322,
"cds_start": 170,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533964.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "XM_017006887.3",
"protein_id": "XP_016862376.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1308,
"cds_start": 170,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006887.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "XM_047448602.1",
"protein_id": "XP_047304558.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1285,
"cds_start": 170,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448602.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "XM_047448603.1",
"protein_id": "XP_047304559.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1219,
"cds_start": 170,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448603.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met",
"transcript": "XM_017006889.3",
"protein_id": "XP_016862378.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1218,
"cds_start": 170,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006889.3"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "c.-83-5524C>T",
"hgvs_p": null,
"transcript": "ENST00000481166.6",
"protein_id": "ENSP00000425499.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481166.6"
},
{
"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": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"transcript": "XR_001740214.2",
"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": "XR_001740214.2"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"transcript": "XR_001740215.2",
"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": "XR_001740215.2"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"transcript": "XR_007095708.1",
"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": "XR_007095708.1"
},
{
"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": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"transcript": "XR_007095709.1",
"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": "XR_007095709.1"
},
{
"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": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"transcript": "XR_007095710.1",
"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": "XR_007095710.1"
}
],
"gene_symbol": "KIF15",
"gene_hgnc_id": 17273,
"dbsnp": "rs147576633",
"frequency_reference_population": 0.000045234625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000458347,
"gnomad_genomes_af": 0.0000394654,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2430165708065033,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.267,
"revel_prediction": "Benign",
"alphamissense_score": 0.089,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.701,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020242.3",
"gene_symbol": "KIF15",
"hgnc_id": 17273,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Thr57Met"
}
],
"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
}