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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: 2-85661483-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85661483&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85661483,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000542.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "NM_000542.5",
"protein_id": "NP_000533.4",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": "ENST00000519937.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000542.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000519937.7",
"protein_id": "ENSP00000428719.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": "NM_000542.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519937.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000393822.7",
"protein_id": "ENSP00000377409.4",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393822.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000409383.7",
"protein_id": "ENSP00000386346.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409383.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1208C>G",
"hgvs_p": "p.Pro403Arg",
"transcript": "ENST00000860691.1",
"protein_id": "ENSP00000530750.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 405,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860691.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1208C>G",
"hgvs_p": "p.Pro403Arg",
"transcript": "ENST00000860727.1",
"protein_id": "ENSP00000530786.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 405,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860727.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1196C>G",
"hgvs_p": "p.Pro399Arg",
"transcript": "ENST00000954883.1",
"protein_id": "ENSP00000624942.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 401,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954883.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1196C>G",
"hgvs_p": "p.Pro399Arg",
"transcript": "ENST00000954901.1",
"protein_id": "ENSP00000624960.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 401,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954901.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1196C>G",
"hgvs_p": "p.Pro399Arg",
"transcript": "ENST00000954904.1",
"protein_id": "ENSP00000624963.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 401,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954904.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1190C>G",
"hgvs_p": "p.Pro397Arg",
"transcript": "ENST00000954890.1",
"protein_id": "ENSP00000624949.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 399,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954890.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1190C>G",
"hgvs_p": "p.Pro397Arg",
"transcript": "ENST00000954907.1",
"protein_id": "ENSP00000624966.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 399,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954907.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1178C>G",
"hgvs_p": "p.Pro393Arg",
"transcript": "ENST00000954932.1",
"protein_id": "ENSP00000624991.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 395,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954932.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000860698.1",
"protein_id": "ENSP00000530757.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 392,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860698.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Pro390Arg",
"transcript": "ENST00000860721.1",
"protein_id": "ENSP00000530780.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 392,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860721.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "NM_198843.3",
"protein_id": "NP_942140.3",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198843.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860670.1",
"protein_id": "ENSP00000530729.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860670.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860672.1",
"protein_id": "ENSP00000530731.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860672.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860673.1",
"protein_id": "ENSP00000530732.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860673.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860674.1",
"protein_id": "ENSP00000530733.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860674.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860682.1",
"protein_id": "ENSP00000530741.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860682.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860683.1",
"protein_id": "ENSP00000530742.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860683.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg",
"transcript": "ENST00000860699.1",
"protein_id": "ENSP00000530758.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 381,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1300,
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"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": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1124C>G",
"hgvs_p": "p.Pro375Arg",
"transcript": "XM_047445415.1",
"protein_id": "XP_047301371.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 377,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"hgvs_c": "c.1002+1863C>G",
"hgvs_p": null,
"transcript": "NM_001367281.1",
"protein_id": "NP_001354210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367281.1"
}
],
"gene_symbol": "SFTPB",
"gene_hgnc_id": 10801,
"dbsnp": "rs144831319",
"frequency_reference_population": 0.00045480268,
"hom_count_reference_population": 7,
"allele_count_reference_population": 733,
"gnomad_exomes_af": 0.000459061,
"gnomad_genomes_af": 0.000413967,
"gnomad_exomes_ac": 670,
"gnomad_genomes_ac": 63,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011989474296569824,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.0774,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.987,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000542.5",
"gene_symbol": "SFTPB",
"hgnc_id": 10801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1136C>G",
"hgvs_p": "p.Pro379Arg"
}
],
"clinvar_disease": " 1, pulmonary,Surfactant metabolism dysfunction,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Surfactant metabolism dysfunction, pulmonary, 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}