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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: 4-108014518-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108014518&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 108014518,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000309522.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu",
"transcript": "NM_005327.7",
"protein_id": "NP_005318.6",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 314,
"cds_start": 349,
"cds_end": null,
"cds_length": 945,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "ENST00000309522.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu",
"transcript": "ENST00000309522.8",
"protein_id": "ENSP00000312288.4",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 314,
"cds_start": 349,
"cds_end": null,
"cds_length": 945,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "NM_005327.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Val176Leu",
"transcript": "ENST00000505878.4",
"protein_id": "ENSP00000425952.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 390,
"cds_start": 526,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu",
"transcript": "ENST00000603302.5",
"protein_id": "ENSP00000474560.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 331,
"cds_start": 349,
"cds_end": null,
"cds_length": 996,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu",
"transcript": "NM_001184705.4",
"protein_id": "NP_001171634.3",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 331,
"cds_start": 349,
"cds_end": null,
"cds_length": 996,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Val121Leu",
"transcript": "NM_001331027.2",
"protein_id": "NP_001317956.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 318,
"cds_start": 361,
"cds_end": null,
"cds_length": 957,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Val121Leu",
"transcript": "ENST00000626637.2",
"protein_id": "ENSP00000486771.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 318,
"cds_start": 361,
"cds_end": null,
"cds_length": 957,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu",
"transcript": "ENST00000403312.6",
"protein_id": "ENSP00000385638.3",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 317,
"cds_start": 349,
"cds_end": null,
"cds_length": 954,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Val69Leu",
"transcript": "ENST00000638559.1",
"protein_id": "ENSP00000490998.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 266,
"cds_start": 205,
"cds_end": null,
"cds_length": 801,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1369,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000507260.3",
"protein_id": null,
"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": 6258,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.361G>C",
"hgvs_p": null,
"transcript": "ENST00000638648.2",
"protein_id": "ENSP00000507949.1",
"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": 1976,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.349G>C",
"hgvs_p": null,
"transcript": "ENST00000639146.1",
"protein_id": "ENSP00000492345.1",
"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": 1964,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.349G>C",
"hgvs_p": null,
"transcript": "ENST00000639335.1",
"protein_id": "ENSP00000491310.1",
"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": 1327,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.229G>C",
"hgvs_p": null,
"transcript": "ENST00000639698.1",
"protein_id": "ENSP00000492420.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.211G>C",
"hgvs_p": null,
"transcript": "ENST00000639784.1",
"protein_id": "ENSP00000491783.1",
"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": 1355,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.187G>C",
"hgvs_p": null,
"transcript": "ENST00000640048.1",
"protein_id": "ENSP00000492009.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*444G>C",
"hgvs_p": null,
"transcript": "ENST00000640060.1",
"protein_id": "ENSP00000492734.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000640201.2",
"protein_id": null,
"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": 2103,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*571G>C",
"hgvs_p": null,
"transcript": "ENST00000640586.1",
"protein_id": "ENSP00000492674.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000640752.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.386G>C",
"hgvs_p": null,
"transcript": "ENST00000681992.1",
"protein_id": null,
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"cds_start": -4,
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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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.307G>C",
"hgvs_p": null,
"transcript": "ENST00000682067.1",
"protein_id": "ENSP00000507544.1",
"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": 987,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.433G>C",
"hgvs_p": null,
"transcript": "ENST00000682197.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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{
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{
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{
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}
],
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"dbsnp": "rs146732064",
"frequency_reference_population": 0.00039033408,
"hom_count_reference_population": 2,
"allele_count_reference_population": 630,
"gnomad_exomes_af": 0.000397447,
"gnomad_genomes_af": 0.000322004,
"gnomad_exomes_ac": 581,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2892637550830841,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.358,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.602,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PS1_Moderate,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PS1_Moderate",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000309522.8",
"gene_symbol": "HADH",
"hgnc_id": 4799,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu"
}
],
"clinvar_disease": " 4, familial,Deficiency of 3-hydroxyacyl-CoA dehydrogenase,Hyperinsulinemic hypoglycemia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4|Hyperinsulinemic hypoglycemia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}