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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: 11-43404016-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43404016&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43404016,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001376525.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "NM_018259.6",
"protein_id": "NP_060729.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000039989.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018259.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "ENST00000039989.9",
"protein_id": "ENSP00000039989.4",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018259.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000039989.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "ENST00000299240.10",
"protein_id": "ENSP00000299240.5",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 956,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299240.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "n.1261A>G",
"hgvs_p": null,
"transcript": "ENST00000526774.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000526774.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1363A>G",
"hgvs_p": "p.Thr455Ala",
"transcript": "ENST00000867749.1",
"protein_id": "ENSP00000537808.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1202,
"cds_start": 1363,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867749.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1354A>G",
"hgvs_p": "p.Thr452Ala",
"transcript": "ENST00000969881.1",
"protein_id": "ENSP00000639940.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1354,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969881.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "NM_001376525.1",
"protein_id": "NP_001363454.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376525.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "ENST00000703837.1",
"protein_id": "ENSP00000515494.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703837.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1303A>G",
"hgvs_p": "p.Thr435Ala",
"transcript": "ENST00000867746.1",
"protein_id": "ENSP00000537805.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867746.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Thr434Ala",
"transcript": "ENST00000867744.1",
"protein_id": "ENSP00000537803.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1181,
"cds_start": 1300,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867744.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "ENST00000867747.1",
"protein_id": "ENSP00000537806.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 1181,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867747.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "ENST00000969882.1",
"protein_id": "ENSP00000639941.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969882.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Thr421Ala",
"transcript": "ENST00000867750.1",
"protein_id": "ENSP00000537809.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867750.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Thr418Ala",
"transcript": "ENST00000969883.1",
"protein_id": "ENSP00000639942.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1252,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969883.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Thr434Ala",
"transcript": "ENST00000969885.1",
"protein_id": "ENSP00000639944.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1155,
"cds_start": 1300,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969885.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Thr434Ala",
"transcript": "ENST00000867745.1",
"protein_id": "ENSP00000537804.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1300,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867745.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Thr421Ala",
"transcript": "NM_001376526.1",
"protein_id": "NP_001363455.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376526.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1069A>G",
"hgvs_p": "p.Thr357Ala",
"transcript": "ENST00000867748.1",
"protein_id": "ENSP00000537807.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867748.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.937A>G",
"hgvs_p": "p.Thr313Ala",
"transcript": "NM_001376527.1",
"protein_id": "NP_001363456.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1003,
"cds_start": 937,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376527.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.682A>G",
"hgvs_p": "p.Thr228Ala",
"transcript": "NM_001376528.1",
"protein_id": "NP_001363457.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 975,
"cds_start": 682,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376528.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.682A>G",
"hgvs_p": "p.Thr228Ala",
"transcript": "ENST00000929847.1",
"protein_id": "ENSP00000599906.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 975,
"cds_start": 682,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929847.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC17",
"gene_hgnc_id": 25596,
"hgvs_c": "c.1351A>G",
"hgvs_p": "p.Thr451Ala",
"transcript": "NM_001307943.2",
"protein_id": "NP_001294872.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 956,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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],
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{
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},
{
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],
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"biotype": "retained_intron",
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],
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"dbsnp": "rs141356687",
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06808039546012878,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.504,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376525.1",
"gene_symbol": "TTC17",
"hgnc_id": 25596,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1351A>G",
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],
"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
}