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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: 14-94463217-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94463217&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINA9",
"hgnc_id": 15995,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_175739.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000256357",
"hgnc_id": null,
"hgvs_c": "n.172-1117C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000536735.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": 0.118,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05306175351142883,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_175739.4",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674397.2",
"protein_coding": true,
"protein_id": "NP_783866.3",
"strand": false,
"transcript": "NM_175739.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674397.2",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175739.4",
"protein_coding": true,
"protein_id": "ENSP00000501517.1",
"strand": false,
"transcript": "ENST00000674397.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000337425.10",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337133.5",
"strand": false,
"transcript": "ENST00000337425.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1014,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000448305.6",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414092.2",
"strand": false,
"transcript": "ENST00000448305.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": 923,
"cds_end": null,
"cds_length": 954,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000298845.12",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298845.8",
"strand": false,
"transcript": "ENST00000298845.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 962,
"cds_end": null,
"cds_length": 861,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000424550.6",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409012.2",
"strand": false,
"transcript": "ENST00000424550.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853990.1",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524049.1",
"strand": false,
"transcript": "ENST00000853990.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000380365.7",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369723.3",
"strand": false,
"transcript": "ENST00000380365.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853989.1",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524048.1",
"strand": false,
"transcript": "ENST00000853989.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1014,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001284275.2",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271204.2",
"strand": false,
"transcript": "NM_001284275.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1008,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674164.1",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501328.1",
"strand": false,
"transcript": "ENST00000674164.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 909,
"cds_end": null,
"cds_length": 954,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001042518.2",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035983.2",
"strand": false,
"transcript": "NM_001042518.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 916,
"cds_end": null,
"cds_length": 861,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001284276.2",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271205.1",
"strand": false,
"transcript": "NM_001284276.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011536714.3",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535016.1",
"strand": false,
"transcript": "XM_011536714.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011536715.3",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535017.1",
"strand": false,
"transcript": "XM_011536715.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047431339.1",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287295.1",
"strand": false,
"transcript": "XM_047431339.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1014,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011536716.3",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535018.1",
"strand": false,
"transcript": "XM_011536716.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 1014,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047431341.1",
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287297.1",
"strand": false,
"transcript": "XM_047431341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536735.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256357",
"hgvs_c": "n.172-1117C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000536735.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199738408",
"effect": "missense_variant",
"frequency_reference_population": 0.000024780476,
"gene_hgnc_id": 15995,
"gene_symbol": "SERPINA9",
"gnomad_exomes_ac": 27,
"gnomad_exomes_af": 0.0000184698,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 13,
"gnomad_genomes_af": 0.000085341,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.264,
"pos": 94463217,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.126,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_175739.4"
}
]
}