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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: 14-94464768-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94464768&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94464768,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000674397.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala",
"transcript": "NM_175739.4",
"protein_id": "NP_783866.3",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 417,
"cds_start": 989,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": "ENST00000674397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala",
"transcript": "ENST00000674397.2",
"protein_id": "ENSP00000501517.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 417,
"cds_start": 989,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": "NM_175739.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Val348Ala",
"transcript": "ENST00000337425.10",
"protein_id": "ENSP00000337133.5",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 435,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Val250Ala",
"transcript": "ENST00000448305.6",
"protein_id": "ENSP00000414092.2",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 337,
"cds_start": 749,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.689T>C",
"hgvs_p": "p.Val230Ala",
"transcript": "ENST00000298845.12",
"protein_id": "ENSP00000298845.8",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 317,
"cds_start": 689,
"cds_end": null,
"cds_length": 954,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.596T>C",
"hgvs_p": "p.Val199Ala",
"transcript": "ENST00000424550.6",
"protein_id": "ENSP00000409012.2",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 286,
"cds_start": 596,
"cds_end": null,
"cds_length": 861,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Val250Ala",
"transcript": "ENST00000546329.2",
"protein_id": "ENSP00000445476.2",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 272,
"cds_start": 749,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1156,
"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": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "n.*519T>C",
"hgvs_p": null,
"transcript": "ENST00000538527.5",
"protein_id": "ENSP00000441511.1",
"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": 1346,
"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": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "n.*519T>C",
"hgvs_p": null,
"transcript": "ENST00000538527.5",
"protein_id": "ENSP00000441511.1",
"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": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala",
"transcript": "ENST00000380365.7",
"protein_id": "ENSP00000369723.3",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 417,
"cds_start": 989,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Val250Ala",
"transcript": "NM_001284275.2",
"protein_id": "NP_001271204.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 337,
"cds_start": 749,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Val248Ala",
"transcript": "ENST00000674164.1",
"protein_id": "ENSP00000501328.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 335,
"cds_start": 743,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.689T>C",
"hgvs_p": "p.Val230Ala",
"transcript": "NM_001042518.2",
"protein_id": "NP_001035983.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 317,
"cds_start": 689,
"cds_end": null,
"cds_length": 954,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.596T>C",
"hgvs_p": "p.Val199Ala",
"transcript": "NM_001284276.2",
"protein_id": "NP_001271205.1",
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"aa_start": 199,
"aa_end": null,
"aa_length": 286,
"cds_start": 596,
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"cdna_start": 775,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala",
"transcript": "XM_011536714.3",
"protein_id": "XP_011535016.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 417,
"cds_start": 989,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala",
"transcript": "XM_011536715.3",
"protein_id": "XP_011535017.1",
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"aa_start": 330,
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"aa_length": 417,
"cds_start": 989,
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"cdna_start": 1166,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala",
"transcript": "XM_047431339.1",
"protein_id": "XP_047287295.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 417,
"cds_start": 989,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Val250Ala",
"transcript": "XM_011536716.3",
"protein_id": "XP_011535018.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 337,
"cds_start": 749,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Val250Ala",
"transcript": "XM_047431341.1",
"protein_id": "XP_047287297.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 337,
"cds_start": 749,
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"cdna_start": 2065,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256357",
"gene_hgnc_id": null,
"hgvs_c": "n.*38A>G",
"hgvs_p": null,
"transcript": "ENST00000536735.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINA9",
"gene_hgnc_id": 15995,
"dbsnp": "rs11628722",
"frequency_reference_population": 0.8074664,
"hom_count_reference_population": 533131,
"allele_count_reference_population": 1302067,
"gnomad_exomes_af": 0.817625,
"gnomad_genomes_af": 0.709917,
"gnomad_exomes_ac": 1194100,
"gnomad_genomes_ac": 107967,
"gnomad_exomes_homalt": 492569,
"gnomad_genomes_homalt": 40562,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000001855992195487488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.1311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.9,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000674397.2",
"gene_symbol": "SERPINA9",
"hgnc_id": 15995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.989T>C",
"hgvs_p": "p.Val330Ala"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000536735.1",
"gene_symbol": "ENSG00000256357",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*38A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}