← Back to variant description
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: 1-183563229-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183563229&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 183563229,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367535.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "NM_000433.4",
"protein_id": "NP_000424.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": "ENST00000367535.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "ENST00000367535.8",
"protein_id": "ENSP00000356505.4",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": "NM_000433.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "ENST00000367536.5",
"protein_id": "ENSP00000356506.1",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "NM_001127651.3",
"protein_id": "NP_001121123.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "ENST00000697330.1",
"protein_id": "ENSP00000513258.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Asn383Ser",
"transcript": "NM_001410895.1",
"protein_id": "NP_001397824.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 490,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Asn383Ser",
"transcript": "ENST00000697351.1",
"protein_id": "ENSP00000513276.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 490,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1121A>G",
"hgvs_p": "p.Asn374Ser",
"transcript": "NM_001190794.2",
"protein_id": "NP_001177723.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 481,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1121A>G",
"hgvs_p": "p.Asn374Ser",
"transcript": "ENST00000413720.5",
"protein_id": "ENSP00000399294.1",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 481,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asn338Ser",
"transcript": "NM_001190789.2",
"protein_id": "NP_001177718.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 445,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asn338Ser",
"transcript": "ENST00000418089.5",
"protein_id": "ENSP00000407217.1",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 445,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "XM_011509580.2",
"protein_id": "XP_011507882.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "XM_011509581.2",
"protein_id": "XP_011507883.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser",
"transcript": "XM_047421222.1",
"protein_id": "XP_047277178.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 526,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Asn383Ser",
"transcript": "XM_005245207.2",
"protein_id": "XP_005245264.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 490,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2159,
"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": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.696A>G",
"hgvs_p": null,
"transcript": "ENST00000469280.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1533,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.1176A>G",
"hgvs_p": null,
"transcript": "ENST00000697329.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "n.233+12039T>C",
"hgvs_p": null,
"transcript": "ENST00000495321.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 556,
"mane_select": null,
"mane_plus": null,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.*43A>G",
"hgvs_p": null,
"transcript": "ENST00000419402.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 584,
"mane_select": null,
"mane_plus": null,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.*40A>G",
"hgvs_p": null,
"transcript": "ENST00000420553.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"dbsnp": "rs35012521",
"frequency_reference_population": 6.840497e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8405e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25976651906967163,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.1215,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.628,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367535.8",
"gene_symbol": "NCF2",
"hgnc_id": 7661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asn419Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000495321.1",
"gene_symbol": "SMG7",
"hgnc_id": 16792,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.233+12039T>C",
"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
}