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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: 14-94378628-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94378628&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94378628,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000393087.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_000295.5",
"protein_id": "NP_000286.3",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": "ENST00000393087.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000393087.9",
"protein_id": "ENSP00000376802.4",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": "NM_000295.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000355814.8",
"protein_id": "ENSP00000348068.4",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000393088.8",
"protein_id": "ENSP00000376803.4",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000404814.8",
"protein_id": "ENSP00000385960.4",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000437397.5",
"protein_id": "ENSP00000408474.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000440909.5",
"protein_id": "ENSP00000390299.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000448921.5",
"protein_id": "ENSP00000416066.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000449399.7",
"protein_id": "ENSP00000416354.3",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1559,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "n.*377G>C",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "n.*377G>C",
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001002235.3",
"protein_id": "NP_001002235.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001002236.3",
"protein_id": "NP_001002236.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127700.2",
"protein_id": "NP_001121172.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127701.2",
"protein_id": "NP_001121173.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127702.2",
"protein_id": "NP_001121174.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127703.2",
"protein_id": "NP_001121175.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127704.2",
"protein_id": "NP_001121176.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127705.2",
"protein_id": "NP_001121177.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127706.2",
"protein_id": "NP_001121178.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "NM_001127707.2",
"protein_id": "NP_001121179.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro",
"transcript": "ENST00000636712.1",
"protein_id": "ENSP00000490054.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 418,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.1078G>C",
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},
{
"aa_ref": "A",
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"missense_variant"
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"gene_symbol": "SERPINA1",
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},
{
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"missense_variant"
],
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"gene_symbol": "SERPINA1",
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}
],
"gene_symbol": "SERPINA1",
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"dbsnp": "rs1802959",
"frequency_reference_population": 0.000006156574,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615657,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9716281890869141,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.854,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.246,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000393087.9",
"gene_symbol": "SERPINA1",
"hgnc_id": 8941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Ala360Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}