← 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: 14-74486404-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74486404&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74486404,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000555619.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "NM_006432.5",
"protein_id": "NP_006423.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 151,
"cds_start": 115,
"cds_end": null,
"cds_length": 456,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 821,
"mane_select": "ENST00000555619.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000555619.6",
"protein_id": "ENSP00000451112.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 151,
"cds_start": 115,
"cds_end": null,
"cds_length": 456,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 821,
"mane_select": "NM_006432.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000557510.5",
"protein_id": "ENSP00000451206.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 174,
"cds_start": 115,
"cds_end": null,
"cds_length": 525,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000553490.5",
"protein_id": "ENSP00000451180.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 220,
"cds_start": 115,
"cds_end": null,
"cds_length": 664,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000434013.6",
"protein_id": "ENSP00000412103.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 201,
"cds_start": 115,
"cds_end": null,
"cds_length": 606,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "NM_001363688.1",
"protein_id": "NP_001350617.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 174,
"cds_start": 115,
"cds_end": null,
"cds_length": 525,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Met",
"transcript": "ENST00000556009.5",
"protein_id": "ENSP00000450502.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 172,
"cds_start": 178,
"cds_end": null,
"cds_length": 519,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000238633.6",
"protein_id": "ENSP00000238633.2",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 148,
"cds_start": 115,
"cds_end": null,
"cds_length": 447,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "NM_001375440.1",
"protein_id": "NP_001362369.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 125,
"cds_start": 115,
"cds_end": null,
"cds_length": 378,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000541064.5",
"protein_id": "ENSP00000442488.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 125,
"cds_start": 115,
"cds_end": null,
"cds_length": 378,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met",
"transcript": "ENST00000555592.1",
"protein_id": "ENSP00000450887.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 121,
"cds_start": 115,
"cds_end": null,
"cds_length": 367,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 469,
"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": "NPC2",
"gene_hgnc_id": 14537,
"hgvs_c": "n.83G>A",
"hgvs_p": null,
"transcript": "ENST00000554482.1",
"protein_id": "ENSP00000451314.1",
"transcript_support_level": 2,
"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": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NPC2",
"gene_hgnc_id": 14537,
"dbsnp": "rs80358261",
"frequency_reference_population": 0.000026214839,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000275864,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7916051149368286,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.802,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7302,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.268,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555619.6",
"gene_symbol": "NPC2",
"hgnc_id": 14537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Met"
}
],
"clinvar_disease": " type C2,NPC2-related disorder,Niemann-Pick disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "Niemann-Pick disease, type C2|NPC2-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}