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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: 5-72223847-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72223847&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 72223847,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001286748.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Asp281Tyr",
"transcript": "NM_015084.3",
"protein_id": "NP_055899.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 414,
"cds_start": 841,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261413.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015084.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Asp281Tyr",
"transcript": "ENST00000261413.10",
"protein_id": "ENSP00000261413.5",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 414,
"cds_start": 841,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015084.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261413.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "n.*269G>T",
"hgvs_p": null,
"transcript": "ENST00000522562.5",
"protein_id": "ENSP00000511937.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000522562.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "n.*269G>T",
"hgvs_p": null,
"transcript": "ENST00000522562.5",
"protein_id": "ENSP00000511937.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000522562.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Asp281Tyr",
"transcript": "ENST00000695404.1",
"protein_id": "ENSP00000511886.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 460,
"cds_start": 841,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695404.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "ENST00000694998.2",
"protein_id": "ENSP00000511636.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 436,
"cds_start": 907,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694998.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.886G>T",
"hgvs_p": "p.Asp296Tyr",
"transcript": "ENST00000926538.1",
"protein_id": "ENSP00000596597.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 429,
"cds_start": 886,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926538.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Asp295Tyr",
"transcript": "NM_001286748.2",
"protein_id": "NP_001273677.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 428,
"cds_start": 883,
"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": "NM_001286748.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Asp295Tyr",
"transcript": "ENST00000513900.6",
"protein_id": "ENSP00000426941.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 428,
"cds_start": 883,
"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": "ENST00000513900.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Asp286Tyr",
"transcript": "ENST00000953797.1",
"protein_id": "ENSP00000623856.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 419,
"cds_start": 856,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953797.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Asp281Tyr",
"transcript": "ENST00000694989.1",
"protein_id": "ENSP00000511631.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 414,
"cds_start": 841,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694989.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Asp281Tyr",
"transcript": "ENST00000694990.1",
"protein_id": "ENSP00000511632.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 414,
"cds_start": 841,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694990.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Asp268Tyr",
"transcript": "ENST00000695403.1",
"protein_id": "ENSP00000511885.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 401,
"cds_start": 802,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695403.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.784G>T",
"hgvs_p": "p.Asp262Tyr",
"transcript": "ENST00000694994.1",
"protein_id": "ENSP00000511933.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 395,
"cds_start": 784,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694994.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.763G>T",
"hgvs_p": "p.Asp255Tyr",
"transcript": "ENST00000695298.1",
"protein_id": "ENSP00000511790.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 388,
"cds_start": 763,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695298.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.718G>T",
"hgvs_p": "p.Asp240Tyr",
"transcript": "ENST00000694995.1",
"protein_id": "ENSP00000511935.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 373,
"cds_start": 718,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694995.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Asp225Tyr",
"transcript": "NM_001286751.2",
"protein_id": "NP_001273680.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 358,
"cds_start": 673,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286751.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Asp225Tyr",
"transcript": "ENST00000457646.9",
"protein_id": "ENSP00000428120.2",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 358,
"cds_start": 673,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457646.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Asp225Tyr",
"transcript": "ENST00000519143.6",
"protein_id": "ENSP00000511934.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 358,
"cds_start": 673,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519143.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Asp225Tyr",
"transcript": "ENST00000694996.2",
"protein_id": "ENSP00000511936.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 358,
"cds_start": 673,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694996.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Asp225Tyr",
"transcript": "ENST00000508863.6",
"protein_id": "ENSP00000426176.2",
"transcript_support_level": 3,
"aa_start": 225,
"aa_end": null,
"aa_length": 298,
"cds_start": 673,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508863.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "n.2651G>T",
"hgvs_p": null,
"transcript": "ENST00000515226.5",
"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": "ENST00000515226.5"
},
{
"aa_ref": null,
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{
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{
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{
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"feature": "ENST00000694997.1"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "MRPS27",
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"biotype": "pseudogene",
"feature": "ENST00000522585.1"
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],
"gene_symbol": "MRPS27",
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"dbsnp": "rs749889500",
"frequency_reference_population": 0.0000041069507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410695,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24124553799629211,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1493,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.551,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286748.2",
"gene_symbol": "MRPS27",
"hgnc_id": 14512,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Asp295Tyr"
}
],
"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
}