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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: 8-22163524-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22163524&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22163524,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000679463.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001317778.2",
"protein_id": "NP_001304707.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 839,
"mane_select": "ENST00000679463.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "ENST00000679463.1",
"protein_id": "ENSP00000505152.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 839,
"mane_select": "NM_001317778.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "ENST00000318561.7",
"protein_id": "ENSP00000316152.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 413,
"cds_end": null,
"cds_length": 594,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "ENST00000521315.5",
"protein_id": "ENSP00000430410.1",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001172410.2",
"protein_id": "NP_001165881.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 413,
"cds_end": null,
"cds_length": 594,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385653.1",
"protein_id": "NP_001372582.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 413,
"cds_end": null,
"cds_length": 594,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385654.1",
"protein_id": "NP_001372583.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 413,
"cds_end": null,
"cds_length": 594,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385655.1",
"protein_id": "NP_001372584.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 413,
"cds_end": null,
"cds_length": 594,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_003018.4",
"protein_id": "NP_003009.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 413,
"cds_end": null,
"cds_length": 594,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001172357.2",
"protein_id": "NP_001165828.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001317780.2",
"protein_id": "NP_001304709.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385656.1",
"protein_id": "NP_001372585.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385657.1",
"protein_id": "NP_001372586.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385658.1",
"protein_id": "NP_001372587.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
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"cdna_start": 1140,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "NM_001385659.1",
"protein_id": "NP_001372588.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 191,
"cds_start": 413,
"cds_end": null,
"cds_length": 576,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "ENST00000437090.6",
"protein_id": "ENSP00000407931.2",
"transcript_support_level": 3,
"aa_start": 138,
"aa_end": null,
"aa_length": 161,
"cds_start": 413,
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"cdna_start": 444,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Asn",
"transcript": "ENST00000520605.5",
"protein_id": "ENSP00000430266.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 155,
"cds_start": 254,
"cds_end": null,
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"cdna_start": 283,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn",
"transcript": "ENST00000522109.5",
"protein_id": "ENSP00000429496.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 150,
"cds_start": 413,
"cds_end": null,
"cds_length": 453,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Asn",
"transcript": "NM_001317779.2",
"protein_id": "NP_001304708.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 144,
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"cds_end": null,
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"cdna_start": 285,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Asn",
"transcript": "NM_001385660.1",
"protein_id": "NP_001372589.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 144,
"cds_start": 254,
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"cdna_start": 981,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Asn",
"transcript": "ENST00000524255.5",
"protein_id": "ENSP00000429552.1",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
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"cds_start": 254,
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"cdna_start": 276,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Asn",
"transcript": "ENST00000523296.1",
"protein_id": "ENSP00000429619.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 123,
"cds_start": 254,
"cds_end": null,
"cds_length": 374,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Asn",
"transcript": "XM_011544613.4",
"protein_id": "XP_011542915.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 144,
"cds_start": 254,
"cds_end": null,
"cds_length": 435,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 712,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "n.212C>A",
"hgvs_p": null,
"transcript": "ENST00000522630.2",
"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": 227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"dbsnp": "rs4715",
"frequency_reference_population": 0.25584233,
"hom_count_reference_population": 54754,
"allele_count_reference_population": 412118,
"gnomad_exomes_af": 0.260472,
"gnomad_genomes_af": 0.21147,
"gnomad_exomes_ac": 379934,
"gnomad_genomes_ac": 32184,
"gnomad_exomes_homalt": 50754,
"gnomad_genomes_homalt": 4000,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027724802494049072,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.1335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.96,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000679463.1",
"gene_symbol": "SFTPC",
"hgnc_id": 10802,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.413C>A",
"hgvs_p": "p.Thr138Asn"
}
],
"clinvar_disease": " 2, Dominant, Recessive, pulmonary,Hereditary pulmonary alveolar proteinosis,Interstitial lung disease 2,Osteogenesis Imperfecta,Pulmonary Surfactant Metabolism Dysfunction,Surfactant metabolism dysfunction,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:7",
"phenotype_combined": "not specified|Pulmonary Surfactant Metabolism Dysfunction, Dominant|Osteogenesis Imperfecta, Recessive|Interstitial lung disease 2|Surfactant metabolism dysfunction, pulmonary, 2|not provided|Hereditary pulmonary alveolar proteinosis",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}