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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: 1-43930190-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43930190&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43930190,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000347631.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His",
"transcript": "NM_006279.5",
"protein_id": "NP_006270.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 375,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": "ENST00000347631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His",
"transcript": "ENST00000347631.8",
"protein_id": "ENSP00000317192.6",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 375,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": "NM_006279.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404His",
"transcript": "ENST00000372372.7",
"protein_id": "ENSP00000361447.2",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 413,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"transcript": "ENST00000361746.9",
"protein_id": "ENSP00000354657.5",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 406,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000361392.9",
"protein_id": "ENSP00000355341.5",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 390,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "ENST00000372368.7",
"protein_id": "ENSP00000361443.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 380,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000361400.9",
"protein_id": "ENSP00000354748.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 359,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000372369.5",
"protein_id": "ENSP00000361444.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 345,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000533933.6",
"protein_id": "ENSP00000432965.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 307,
"cds_start": 893,
"cds_end": null,
"cds_length": 924,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"transcript": "ENST00000332628.11",
"protein_id": "ENSP00000329755.7",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 303,
"cds_start": 881,
"cds_end": null,
"cds_length": 912,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "ENST00000531993.6",
"protein_id": "ENSP00000432682.2",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 230,
"cds_start": 662,
"cds_end": null,
"cds_length": 693,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.501G>A",
"hgvs_p": "p.Ser167Ser",
"transcript": "ENST00000361812.9",
"protein_id": "ENSP00000355201.4",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 170,
"cds_start": 501,
"cds_end": null,
"cds_length": 513,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.456G>A",
"hgvs_p": "p.Ser152Ser",
"transcript": "ENST00000372362.6",
"protein_id": "ENSP00000361437.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 155,
"cds_start": 456,
"cds_end": null,
"cds_length": 468,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.408G>A",
"hgvs_p": "p.Ser136Ser",
"transcript": "ENST00000531451.5",
"protein_id": "ENSP00000435603.1",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 139,
"cds_start": 408,
"cds_end": null,
"cds_length": 420,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.*723G>A",
"hgvs_p": null,
"transcript": "ENST00000469715.6",
"protein_id": "ENSP00000431700.2",
"transcript_support_level": 1,
"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": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.*874G>A",
"hgvs_p": null,
"transcript": "ENST00000490541.6",
"protein_id": "ENSP00000435018.2",
"transcript_support_level": 1,
"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": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.*175G>A",
"hgvs_p": null,
"transcript": "ENST00000530581.5",
"protein_id": "ENSP00000437293.1",
"transcript_support_level": 1,
"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": 893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.*294G>A",
"hgvs_p": null,
"transcript": "ENST00000533212.5",
"protein_id": "ENSP00000435621.1",
"transcript_support_level": 1,
"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": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.*628G>A",
"hgvs_p": null,
"transcript": "ENST00000533997.6",
"protein_id": "ENSP00000432071.1",
"transcript_support_level": 1,
"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": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284989",
"gene_hgnc_id": null,
"hgvs_c": "n.*2419G>A",
"hgvs_p": null,
"transcript": "ENST00000645057.1",
"protein_id": "ENSP00000494063.1",
"transcript_support_level": null,
"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": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.*7G>A",
"hgvs_p": null,
"transcript": "ENST00000372367.5",
"protein_id": "ENSP00000361442.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.*81G>A",
"hgvs_p": null,
"transcript": "ENST00000372365.5",
"protein_id": "ENSP00000361440.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.*7G>A",
"hgvs_p": null,
"transcript": "ENST00000528371.5",
"protein_id": "ENSP00000434876.1",
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},
{
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"protein_coding": false,
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],
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"transcript": "ENST00000647134.1",
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},
{
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
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"exon_count": 12,
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"gene_symbol": "ST3GAL3",
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"transcript": "ENST00000647482.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "ST3GAL3",
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"transcript": "ENST00000490502.1",
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"cds_end": null,
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"cdna_length": 592,
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},
{
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"protein_coding": true,
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"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "ST3GAL3",
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"hgvs_c": "c.*104G>A",
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"transcript": "XM_011541973.3",
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"biotype": null,
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}
],
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"dbsnp": "rs572958701",
"frequency_reference_population": 0.000028500584,
"hom_count_reference_population": 1,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000301026,
"gnomad_genomes_af": 0.000013129,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05643525719642639,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0878,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.04,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000347631.8",
"gene_symbol": "ST3GAL3",
"hgnc_id": 10866,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000645057.1",
"gene_symbol": "ENSG00000284989",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2419G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}