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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: 2-96351838-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96351838&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96351838,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000240423.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Pro243Arg",
"transcript": "NM_015341.5",
"protein_id": "NP_056156.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 741,
"cds_start": 728,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 6030,
"mane_select": "ENST00000240423.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Pro243Arg",
"transcript": "ENST00000240423.9",
"protein_id": "ENSP00000240423.4",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 741,
"cds_start": 728,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 6030,
"mane_select": "NM_015341.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Pro232Arg",
"transcript": "ENST00000435975.5",
"protein_id": "ENSP00000405237.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 606,
"cds_start": 695,
"cds_end": null,
"cds_length": 1823,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "n.685C>G",
"hgvs_p": null,
"transcript": "ENST00000477409.1",
"protein_id": null,
"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": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Pro232Arg",
"transcript": "NM_001281710.2",
"protein_id": "NP_001268639.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 730,
"cds_start": 695,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Pro232Arg",
"transcript": "ENST00000455200.5",
"protein_id": "ENSP00000407308.1",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 730,
"cds_start": 695,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Pro219Arg",
"transcript": "NM_001281711.2",
"protein_id": "NP_001268640.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 717,
"cds_start": 656,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Pro107Arg",
"transcript": "NM_001281712.2",
"protein_id": "NP_001268641.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 605,
"cds_start": 320,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Pro107Arg",
"transcript": "ENST00000427946.5",
"protein_id": "ENSP00000400774.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 605,
"cds_start": 320,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.371C>G",
"hgvs_p": "p.Pro124Arg",
"transcript": "ENST00000456906.5",
"protein_id": "ENSP00000401227.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 215,
"cds_start": 371,
"cds_end": null,
"cds_length": 650,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Pro243Arg",
"transcript": "XM_005263908.5",
"protein_id": "XP_005263965.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 725,
"cds_start": 728,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Pro243Arg",
"transcript": "XM_006712388.5",
"protein_id": "XP_006712451.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 710,
"cds_start": 728,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Pro232Arg",
"transcript": "XM_047443836.1",
"protein_id": "XP_047299792.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 699,
"cds_start": 695,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Pro219Arg",
"transcript": "XM_047443837.1",
"protein_id": "XP_047299793.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 686,
"cds_start": 656,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCAPH",
"gene_hgnc_id": 1112,
"dbsnp": "rs1553446603",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.977968156337738,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.628,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.818,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000240423.9",
"gene_symbol": "NCAPH",
"hgnc_id": 1112,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Pro243Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}