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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: 5-179798929-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179798929&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 179798929,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_054013.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "NM_014275.5",
"protein_id": "NP_055090.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 548,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292591.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014275.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000292591.12",
"protein_id": "ENSP00000292591.7",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 548,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014275.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292591.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "ENST00000519836.5",
"protein_id": "ENSP00000430721.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 428,
"cds_start": 944,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519836.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Trp",
"transcript": "ENST00000518778.5",
"protein_id": "ENSP00000428906.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 372,
"cds_start": 814,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518778.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000881425.1",
"protein_id": "ENSP00000551484.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 575,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881425.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "NM_054013.3",
"protein_id": "NP_463459.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 563,
"cds_start": 1387,
"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": "NM_054013.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "ENST00000337755.9",
"protein_id": "ENSP00000338487.5",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 563,
"cds_start": 1387,
"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": "ENST00000337755.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Trp",
"transcript": "ENST00000960973.1",
"protein_id": "ENSP00000631032.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 553,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960973.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Trp",
"transcript": "ENST00000960975.1",
"protein_id": "ENSP00000631034.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 544,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960975.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "ENST00000960976.1",
"protein_id": "ENSP00000631035.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 542,
"cds_start": 1339,
"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": "ENST00000960976.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441Trp",
"transcript": "ENST00000960972.1",
"protein_id": "ENSP00000631031.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 541,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960972.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Arg428Trp",
"transcript": "ENST00000881423.1",
"protein_id": "ENSP00000551482.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 528,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881423.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Trp",
"transcript": "ENST00000960974.1",
"protein_id": "ENSP00000631033.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 512,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960974.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Arg410Trp",
"transcript": "ENST00000881424.1",
"protein_id": "ENSP00000551483.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 510,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881424.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Trp",
"transcript": "ENST00000881426.1",
"protein_id": "ENSP00000551485.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 495,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881426.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Trp",
"transcript": "ENST00000520875.5",
"protein_id": "ENSP00000430723.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 320,
"cds_start": 682,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520875.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val",
"transcript": "ENST00000518980.5",
"protein_id": "ENSP00000431093.1",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 306,
"cds_start": 578,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518980.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Cys",
"transcript": "ENST00000520969.5",
"protein_id": "ENSP00000428960.1",
"transcript_support_level": 3,
"aa_start": 144,
"aa_end": null,
"aa_length": 239,
"cds_start": 430,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520969.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "XM_024454349.2",
"protein_id": "XP_024310117.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 403,
"cds_start": 907,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454349.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.639+136C>T",
"hgvs_p": null,
"transcript": "ENST00000518867.5",
"protein_id": "ENSP00000428764.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518867.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.372C>T",
"hgvs_p": null,
"transcript": "ENST00000522293.5",
"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": "ENST00000522293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.513+136C>T",
"hgvs_p": null,
"transcript": "ENST00000523382.5",
"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": "ENST00000523382.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.-94C>T",
"hgvs_p": null,
"transcript": "ENST00000522451.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000522451.5"
}
],
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"dbsnp": "rs149772768",
"frequency_reference_population": 0.000021693964,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000225855,
"gnomad_genomes_af": 0.0000131375,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7406377792358398,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.33399999141693115,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.5439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.581,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.011259343575331,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_054013.3",
"gene_symbol": "MGAT4B",
"hgnc_id": 7048,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp"
}
],
"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
}