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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: 13-113118892-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113118892&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113118892,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000131.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"transcript": "NM_019616.4",
"protein_id": "NP_062562.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 444,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346342.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019616.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"transcript": "ENST00000346342.8",
"protein_id": "ENSP00000329546.4",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 444,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019616.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346342.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "ENST00000375581.3",
"protein_id": "ENSP00000364731.3",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 466,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375581.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Ala478Thr",
"transcript": "ENST00000891255.1",
"protein_id": "ENSP00000561314.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 515,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891255.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Ala465Thr",
"transcript": "ENST00000891251.1",
"protein_id": "ENSP00000561310.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 502,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891251.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Ala464Thr",
"transcript": "ENST00000891248.1",
"protein_id": "ENSP00000561307.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 501,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891248.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"transcript": "ENST00000891256.1",
"protein_id": "ENSP00000561315.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 482,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891256.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "ENST00000891247.1",
"protein_id": "ENSP00000561306.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 481,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891247.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Ala443Thr",
"transcript": "ENST00000891240.1",
"protein_id": "ENSP00000561299.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 480,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891240.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Ala443Thr",
"transcript": "ENST00000891257.1",
"protein_id": "ENSP00000561316.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 480,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891257.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Ala442Thr",
"transcript": "ENST00000891241.1",
"protein_id": "ENSP00000561300.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 479,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891241.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"transcript": "ENST00000891252.1",
"protein_id": "ENSP00000561311.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 474,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891252.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000891254.1",
"protein_id": "ENSP00000561313.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 467,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891254.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "NM_000131.5",
"protein_id": "NP_000122.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 466,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000131.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Ala406Thr",
"transcript": "ENST00000891243.1",
"protein_id": "ENSP00000561302.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 443,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891243.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Ala406Thr",
"transcript": "ENST00000891250.1",
"protein_id": "ENSP00000561309.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 443,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891250.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Ala404Thr",
"transcript": "ENST00000891246.1",
"protein_id": "ENSP00000561305.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 441,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891246.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000891245.1",
"protein_id": "ENSP00000561304.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 432,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891245.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Ala394Thr",
"transcript": "ENST00000891239.1",
"protein_id": "ENSP00000561298.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 431,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891239.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "ENST00000891258.1",
"protein_id": "ENSP00000561317.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 428,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891258.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Ala381Thr",
"transcript": "ENST00000891253.1",
"protein_id": "ENSP00000561312.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 418,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891253.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Ala367Thr",
"transcript": "ENST00000891249.1",
"protein_id": "ENSP00000561308.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 404,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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"gene_symbol": "F7",
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"hgvs_c": "c.979G>A",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "F7",
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"hgvs_c": "n.1303G>A",
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"transcript": "NR_051961.2",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "NR_051961.2"
}
],
"gene_symbol": "F7",
"gene_hgnc_id": 3544,
"dbsnp": "rs755377592",
"frequency_reference_population": 0.000019846955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.000020546,
"gnomad_genomes_af": 0.0000131406,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9645172357559204,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.77,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6391,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.699,
"phylop100way_prediction": "Uncertain_significance",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000131.5",
"gene_symbol": "F7",
"hgnc_id": 3544,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr"
}
],
"clinvar_disease": " susceptibility to,Congenital factor VII deficiency,F7-related disorder,Factor VII deficiency,Myocardial infarction",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Factor VII deficiency|F7-related disorder|Myocardial infarction, susceptibility to;Congenital factor VII deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}