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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: 7-128400120-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128400120&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128400120,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000338791.11",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.849T>G",
"hgvs_p": "p.Asn283Lys",
"transcript": "NM_000883.4",
"protein_id": "NP_000874.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 599,
"cds_start": 849,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "ENST00000338791.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.849T>G",
"hgvs_p": "p.Asn283Lys",
"transcript": "ENST00000338791.11",
"protein_id": "ENSP00000345096.6",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 599,
"cds_start": 849,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "NM_000883.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.741T>G",
"hgvs_p": "p.Asn247Lys",
"transcript": "ENST00000348127.11",
"protein_id": "ENSP00000265385.8",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 563,
"cds_start": 741,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.819T>G",
"hgvs_p": "p.Asn273Lys",
"transcript": "NM_001102605.2",
"protein_id": "NP_001096075.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 589,
"cds_start": 819,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.819T>G",
"hgvs_p": "p.Asn273Lys",
"transcript": "ENST00000354269.9",
"protein_id": "ENSP00000346219.5",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 589,
"cds_start": 819,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.750T>G",
"hgvs_p": "p.Asn250Lys",
"transcript": "NM_001142576.2",
"protein_id": "NP_001136048.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 566,
"cds_start": 750,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.750T>G",
"hgvs_p": "p.Asn250Lys",
"transcript": "ENST00000419067.6",
"protein_id": "ENSP00000399400.2",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 566,
"cds_start": 750,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.741T>G",
"hgvs_p": "p.Asn247Lys",
"transcript": "NM_183243.3",
"protein_id": "NP_899066.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 563,
"cds_start": 741,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.642T>G",
"hgvs_p": "p.Asn214Lys",
"transcript": "NM_001304521.2",
"protein_id": "NP_001291450.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 530,
"cds_start": 642,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.594T>G",
"hgvs_p": "p.Asn198Lys",
"transcript": "NM_001142573.2",
"protein_id": "NP_001136045.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 514,
"cds_start": 594,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Asn197Lys",
"transcript": "ENST00000470772.5",
"protein_id": "ENSP00000417296.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 513,
"cds_start": 591,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asn193Lys",
"transcript": "NM_001142574.2",
"protein_id": "NP_001136046.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 509,
"cds_start": 579,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Asn193Lys",
"transcript": "ENST00000480861.5",
"protein_id": "ENSP00000420185.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 509,
"cds_start": 579,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.480T>G",
"hgvs_p": "p.Asn160Lys",
"transcript": "ENST00000648462.1",
"protein_id": "ENSP00000496892.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 508,
"cds_start": 480,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.519T>G",
"hgvs_p": "p.Asn173Lys",
"transcript": "NM_001142575.2",
"protein_id": "NP_001136047.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 489,
"cds_start": 519,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.519T>G",
"hgvs_p": "p.Asn173Lys",
"transcript": "ENST00000496200.5",
"protein_id": "ENSP00000420803.1",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 489,
"cds_start": 519,
"cds_end": null,
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"cdna_start": 603,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.642T>G",
"hgvs_p": "p.Asn214Lys",
"transcript": "ENST00000497868.5",
"protein_id": "ENSP00000419609.1",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 288,
"cds_start": 642,
"cds_end": null,
"cds_length": 867,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.819T>G",
"hgvs_p": "p.Asn273Lys",
"transcript": "XM_024446755.1",
"protein_id": "XP_024302523.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 621,
"cds_start": 819,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.741T>G",
"hgvs_p": "p.Asn247Lys",
"transcript": "XM_024446756.1",
"protein_id": "XP_024302524.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 595,
"cds_start": 741,
"cds_end": null,
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"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.642T>G",
"hgvs_p": "p.Asn214Lys",
"transcript": "XM_024446757.2",
"protein_id": "XP_024302525.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 562,
"cds_start": 642,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.618T>G",
"hgvs_p": "p.Asn206Lys",
"transcript": "XM_024446758.1",
"protein_id": "XP_024302526.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 554,
"cds_start": 618,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.231T>G",
"hgvs_p": "p.Asn77Lys",
"transcript": "XM_047420333.1",
"protein_id": "XP_047276289.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 425,
"cds_start": 231,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.819T>G",
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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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"consequences": [
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],
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"transcript": "ENST00000489263.1",
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}
],
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"dbsnp": "rs121912554",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.0000109562,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8282573223114014,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.638,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.578,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PS1",
"PM2",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000338791.11",
"gene_symbol": "IMPDH1",
"hgnc_id": 6052,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.849T>G",
"hgvs_p": "p.Asn283Lys"
}
],
"clinvar_disease": "Leber congenital amaurosis 11",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Leber congenital amaurosis 11",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}