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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: 1-59457020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=59457020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 59457020,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018291.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "NM_018291.5",
"protein_id": "NP_060761.3",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 551,
"cds_start": 614,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": "ENST00000303721.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "ENST00000303721.12",
"protein_id": "ENSP00000305922.8",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 551,
"cds_start": 614,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": "NM_018291.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "ENST00000371218.8",
"protein_id": "ENSP00000360262.4",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "NM_001113411.2",
"protein_id": "NP_001106882.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "NM_001350790.2",
"protein_id": "NP_001337719.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "NM_001350791.2",
"protein_id": "NP_001337720.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 551,
"cds_start": 614,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Ser149Asn",
"transcript": "NM_001350792.2",
"protein_id": "NP_001337721.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 495,
"cds_start": 446,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Ser149Asn",
"transcript": "NM_001350793.2",
"protein_id": "NP_001337722.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 495,
"cds_start": 446,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "NM_001350794.2",
"protein_id": "NP_001337723.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 491,
"cds_start": 614,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Ser117Asn",
"transcript": "NM_001350795.2",
"protein_id": "NP_001337724.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 487,
"cds_start": 350,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Ser117Asn",
"transcript": "NM_001244714.2",
"protein_id": "NP_001231643.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 463,
"cds_start": 350,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Ser117Asn",
"transcript": "ENST00000371212.5",
"protein_id": "ENSP00000360256.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 463,
"cds_start": 350,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Ser93Asn",
"transcript": "NM_001350796.2",
"protein_id": "NP_001337725.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 439,
"cds_start": 278,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Ser71Asn",
"transcript": "NM_001350797.2",
"protein_id": "NP_001337726.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 417,
"cds_start": 212,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Ser93Asn",
"transcript": "NM_001350798.2",
"protein_id": "NP_001337727.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 403,
"cds_start": 278,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Ser93Asn",
"transcript": "NM_001350799.2",
"protein_id": "NP_001337728.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 379,
"cds_start": 278,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_011541730.2",
"protein_id": "XP_011540032.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_011541731.2",
"protein_id": "XP_011540033.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_017001643.3",
"protein_id": "XP_016857132.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
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"cdna_start": 777,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_024448176.2",
"protein_id": "XP_024303944.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_047424380.1",
"protein_id": "XP_047280336.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_047424381.1",
"protein_id": "XP_047280337.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 575,
"cds_start": 614,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn",
"transcript": "XM_047424382.1",
"protein_id": "XP_047280338.1",
"transcript_support_level": null,
"aa_start": 205,
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"gene_hgnc_id": 25610,
"hgvs_c": "c.-11G>A",
"hgvs_p": null,
"transcript": "XM_024448229.2",
"protein_id": "XP_024303997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"hgvs_c": "n.*123G>A",
"hgvs_p": null,
"transcript": "ENST00000634399.1",
"protein_id": "ENSP00000489146.1",
"transcript_support_level": 5,
"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": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGGY",
"gene_hgnc_id": 25610,
"dbsnp": "rs376744089",
"frequency_reference_population": 0.00008363628,
"hom_count_reference_population": 1,
"allele_count_reference_population": 135,
"gnomad_exomes_af": 0.0000718288,
"gnomad_genomes_af": 0.000196951,
"gnomad_exomes_ac": 105,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28914913535118103,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1018,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.351,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_018291.5",
"gene_symbol": "FGGY",
"hgnc_id": 25610,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Ser205Asn"
}
],
"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
}