← 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: 1-183560204-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183560204&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 183560204,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367535.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "NM_000433.4",
"protein_id": "NP_000424.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": "ENST00000367535.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "ENST00000367535.8",
"protein_id": "ENSP00000356505.4",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": "NM_000433.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "ENST00000367536.5",
"protein_id": "ENSP00000356506.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "NM_001127651.3",
"protein_id": "NP_001121123.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "ENST00000697330.1",
"protein_id": "ENSP00000513258.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Pro418Ser",
"transcript": "NM_001410895.1",
"protein_id": "NP_001397824.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 490,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Pro418Ser",
"transcript": "ENST00000697351.1",
"protein_id": "ENSP00000513276.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 490,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "NM_001190794.2",
"protein_id": "NP_001177723.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 481,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000413720.5",
"protein_id": "ENSP00000399294.1",
"transcript_support_level": 2,
"aa_start": 409,
"aa_end": null,
"aa_length": 481,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "NM_001190789.2",
"protein_id": "NP_001177718.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 445,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "ENST00000418089.5",
"protein_id": "ENSP00000407217.1",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 445,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "XM_011509580.2",
"protein_id": "XP_011507882.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "XM_011509581.2",
"protein_id": "XP_011507883.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser",
"transcript": "XM_047421222.1",
"protein_id": "XP_047277178.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 526,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Pro418Ser",
"transcript": "XM_005245207.2",
"protein_id": "XP_005245264.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 490,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1382,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.800C>T",
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"hgvs_c": "n.1280C>T",
"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+9014G>A",
"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
}
],
"gene_symbol": "NCF2",
"gene_hgnc_id": 7661,
"dbsnp": "rs55761650",
"frequency_reference_population": 0.0061339242,
"hom_count_reference_population": 37,
"allele_count_reference_population": 9901,
"gnomad_exomes_af": 0.006283,
"gnomad_genomes_af": 0.00470261,
"gnomad_exomes_ac": 9185,
"gnomad_genomes_ac": 716,
"gnomad_exomes_homalt": 30,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004563093185424805,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.031,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000367535.8",
"gene_symbol": "NCF2",
"hgnc_id": 7661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Pro454Ser"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000495321.1",
"gene_symbol": "SMG7",
"hgnc_id": 16792,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.233+9014G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, chronic, cytochrome b-positive, type 2,Granulomatous disease,NCF2-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3",
"phenotype_combined": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not specified|NCF2-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}