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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: 19-35651302-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35651302&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35651302,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001863.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "NM_001863.5",
"protein_id": "NP_001854.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 488,
"mane_select": "ENST00000649813.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001863.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000649813.2",
"protein_id": "ENSP00000497926.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 488,
"mane_select": "NM_001863.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649813.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938371.1",
"protein_id": "ENSP00000608430.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 104,
"cds_start": 59,
"cds_end": null,
"cds_length": 315,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938371.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000392201.1",
"protein_id": "ENSP00000376037.2",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392201.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000592141.6",
"protein_id": "ENSP00000466818.2",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592141.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000858001.1",
"protein_id": "ENSP00000528060.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858001.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000858002.1",
"protein_id": "ENSP00000528061.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858002.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938368.1",
"protein_id": "ENSP00000608427.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938368.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938369.1",
"protein_id": "ENSP00000608428.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938369.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938370.1",
"protein_id": "ENSP00000608429.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938370.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938372.1",
"protein_id": "ENSP00000608431.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938372.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938373.1",
"protein_id": "ENSP00000608432.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 86,
"cds_start": 59,
"cds_end": null,
"cds_length": 261,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938373.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000938367.1",
"protein_id": "ENSP00000608426.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 85,
"cds_start": 59,
"cds_end": null,
"cds_length": 258,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His",
"transcript": "ENST00000652250.1",
"protein_id": "ENSP00000498883.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 53,
"cds_start": 59,
"cds_end": null,
"cds_length": 162,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652250.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19His",
"transcript": "ENST00000590618.1",
"protein_id": "ENSP00000467776.2",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 39,
"cds_start": 56,
"cds_end": null,
"cds_length": 120,
"cdna_start": 58,
"cdna_end": null,
"cdna_length": 290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590618.1"
}
],
"gene_symbol": "COX6B1",
"gene_hgnc_id": 2280,
"dbsnp": "rs121909602",
"frequency_reference_population": 0.0000054726374,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547264,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.979003369808197,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8488,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.158,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001863.5",
"gene_symbol": "COX6B1",
"hgnc_id": 2280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20His"
}
],
"clinvar_disease": " nuclear type 1, nuclear type 7,Mitochondrial complex IV deficiency",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mitochondrial complex IV deficiency, nuclear type 1|Mitochondrial complex IV deficiency, nuclear type 7",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}