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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: 19-19024994-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19024994&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19024994,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000452918.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "NM_001017392.5",
"protein_id": "NP_001017392.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": "ENST00000452918.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "ENST00000452918.7",
"protein_id": "ENSP00000389380.1",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": "NM_001017392.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "ENST00000337018.10",
"protein_id": "ENSP00000337926.5",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.1354C>A",
"hgvs_p": null,
"transcript": "ENST00000330854.15",
"protein_id": "ENSP00000332373.10",
"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": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Leu466Ile",
"transcript": "NM_001321698.1",
"protein_id": "NP_001308627.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Leu466Ile",
"transcript": "NM_001321699.1",
"protein_id": "NP_001308628.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 6197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Leu466Ile",
"transcript": "ENST00000600377.1",
"protein_id": "ENSP00000472914.1",
"transcript_support_level": 2,
"aa_start": 466,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "NM_001321697.2",
"protein_id": "NP_001308626.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "NM_001352071.2",
"protein_id": "NP_001339000.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "NM_014884.5",
"protein_id": "NP_055699.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "ENST00000601879.5",
"protein_id": "ENSP00000472286.1",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Leu466Ile",
"transcript": "XM_024451307.2",
"protein_id": "XP_024307075.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 7473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Leu466Ile",
"transcript": "XM_024451308.2",
"protein_id": "XP_024307076.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 6816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "XM_047438022.1",
"protein_id": "XP_047293978.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 7471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "XM_047438023.1",
"protein_id": "XP_047293979.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 7473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "XM_047438027.1",
"protein_id": "XP_047293983.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1354,
"cds_end": null,
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"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 7465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Leu466Ile",
"transcript": "XM_047438025.1",
"protein_id": "XP_047293981.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile",
"transcript": "XM_047438026.1",
"protein_id": "XP_047293982.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.1354C>A",
"hgvs_p": null,
"transcript": "ENST00000594773.5",
"protein_id": "ENSP00000470915.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.*404C>A",
"hgvs_p": null,
"transcript": "ENST00000598240.1",
"protein_id": "ENSP00000472244.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.1354C>A",
"hgvs_p": null,
"transcript": "ENST00000600239.5",
"protein_id": "ENSP00000473187.1",
"transcript_support_level": 2,
"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": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
"gene_hgnc_id": 18641,
"hgvs_c": "n.1446C>A",
"hgvs_p": null,
"transcript": "NR_147913.2",
"protein_id": null,
"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": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUGP2",
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},
{
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],
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "SUGP2",
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"transcript": "ENST00000598240.1",
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}
],
"gene_symbol": "SUGP2",
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"dbsnp": "rs12459416",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3505000174045563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.3587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.909,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000452918.7",
"gene_symbol": "SUGP2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Leu452Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}