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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: 14-94381049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94381049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94381049,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393087.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_000295.5",
"protein_id": "NP_000286.3",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": "ENST00000393087.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000393087.9",
"protein_id": "ENSP00000376802.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": "NM_000295.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000355814.8",
"protein_id": "ENSP00000348068.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000393088.8",
"protein_id": "ENSP00000376803.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000404814.8",
"protein_id": "ENSP00000385960.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000437397.5",
"protein_id": "ENSP00000408474.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000440909.5",
"protein_id": "ENSP00000390299.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000448921.5",
"protein_id": "ENSP00000416066.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000449399.7",
"protein_id": "ENSP00000416354.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000402629.1",
"protein_id": "ENSP00000386094.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "n.739C>T",
"hgvs_p": null,
"transcript": "ENST00000489769.1",
"protein_id": "ENSP00000451525.1",
"transcript_support_level": 1,
"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": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001002235.3",
"protein_id": "NP_001002235.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001002236.3",
"protein_id": "NP_001002236.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127700.2",
"protein_id": "NP_001121172.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127701.2",
"protein_id": "NP_001121173.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127702.2",
"protein_id": "NP_001121174.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127703.2",
"protein_id": "NP_001121175.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127704.2",
"protein_id": "NP_001121176.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127705.2",
"protein_id": "NP_001121177.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
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"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127706.2",
"protein_id": "NP_001121178.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
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"cds_length": 1257,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "NM_001127707.2",
"protein_id": "NP_001121179.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000636712.1",
"protein_id": "ENSP00000490054.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "XM_017021370.2",
"protein_id": "XP_016876859.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "XM_047431478.1",
"protein_id": "XP_047287434.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "XM_047431479.1",
"protein_id": "XP_047287435.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"dbsnp": "rs28929470",
"frequency_reference_population": 0.0030712439,
"hom_count_reference_population": 6,
"allele_count_reference_population": 4957,
"gnomad_exomes_af": 0.00318634,
"gnomad_genomes_af": 0.00196532,
"gnomad_exomes_ac": 4658,
"gnomad_genomes_ac": 299,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029084444046020508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.599,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.29,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BP4,BS1_Supporting,BS2_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 3,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BS1_Supporting",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393087.9",
"gene_symbol": "SERPINA1",
"hgnc_id": 8941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys"
}
],
"clinvar_disease": "Alpha-1-antitrypsin deficiency,Inborn genetic diseases,PI F,SERPINA1-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:6",
"phenotype_combined": "PI F|Alpha-1-antitrypsin deficiency|not specified|Inborn genetic diseases|not provided|SERPINA1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}