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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: 8-22162727-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22162727&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22162727,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000679463.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001317778.2",
"protein_id": "NP_001304707.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 839,
"mane_select": "ENST00000679463.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000679463.1",
"protein_id": "ENSP00000505152.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 839,
"mane_select": "NM_001317778.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000318561.7",
"protein_id": "ENSP00000316152.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000521315.5",
"protein_id": "ENSP00000430410.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001172410.2",
"protein_id": "NP_001165881.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385653.1",
"protein_id": "NP_001372582.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385654.1",
"protein_id": "NP_001372583.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385655.1",
"protein_id": "NP_001372584.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_003018.4",
"protein_id": "NP_003009.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 197,
"cds_start": 196,
"cds_end": null,
"cds_length": 594,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001172357.2",
"protein_id": "NP_001165828.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001317780.2",
"protein_id": "NP_001304709.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385656.1",
"protein_id": "NP_001372585.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385657.1",
"protein_id": "NP_001372586.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385658.1",
"protein_id": "NP_001372587.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001385659.1",
"protein_id": "NP_001372588.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 196,
"cds_end": null,
"cds_length": 576,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000437090.6",
"protein_id": "ENSP00000407931.2",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 161,
"cds_start": 196,
"cds_end": null,
"cds_length": 486,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000522109.5",
"protein_id": "ENSP00000429496.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 150,
"cds_start": 196,
"cds_end": null,
"cds_length": 453,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 921,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "n.216G>A",
"hgvs_p": null,
"transcript": "ENST00000518615.2",
"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": 377,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "n.988G>A",
"hgvs_p": null,
"transcript": "ENST00000524318.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.43-353G>A",
"hgvs_p": null,
"transcript": "ENST00000520605.5",
"protein_id": "ENSP00000430266.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.43-353G>A",
"hgvs_p": null,
"transcript": "NM_001317779.2",
"protein_id": "NP_001304708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.43-353G>A",
"hgvs_p": null,
"transcript": "NM_001385660.1",
"protein_id": "NP_001372589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.43-353G>A",
"hgvs_p": null,
"transcript": "ENST00000524255.5",
"protein_id": "ENSP00000429552.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 681,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "SFTPC",
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"hgvs_c": "c.43-353G>A",
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"transcript": "ENST00000523296.1",
"protein_id": "ENSP00000429619.1",
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"aa_start": null,
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"aa_length": 123,
"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "SFTPC",
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"hgvs_c": "c.43-353G>A",
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"transcript": "XM_011544613.4",
"protein_id": "XP_011542915.1",
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"aa_start": null,
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"aa_length": 144,
"cds_start": -4,
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"cds_length": 435,
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"cdna_length": 712,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"dbsnp": "rs121917836",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9773321747779846,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.806,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.357,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000679463.1",
"gene_symbol": "SFTPC",
"hgnc_id": 10802,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys"
}
],
"clinvar_disease": " 2, pulmonary,Surfactant metabolism dysfunction",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Surfactant metabolism dysfunction, pulmonary, 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}