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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: 9-133352708-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133352708&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133352708,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000371974.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp",
"transcript": "NM_003172.4",
"protein_id": "NP_003163.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 300,
"cds_start": 574,
"cds_end": null,
"cds_length": 903,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": "ENST00000371974.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp",
"transcript": "ENST00000371974.8",
"protein_id": "ENSP00000361042.3",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 300,
"cds_start": 574,
"cds_end": null,
"cds_length": 903,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": "NM_003172.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000615505.4",
"protein_id": "ENSP00000482067.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 191,
"cds_start": 247,
"cds_end": null,
"cds_length": 576,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "NM_001280787.1",
"protein_id": "NP_001267716.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 191,
"cds_start": 247,
"cds_end": null,
"cds_length": 576,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 991,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"hgvs_c": "n.484C>T",
"hgvs_p": null,
"transcript": "ENST00000437995.1",
"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": 813,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"hgvs_c": "n.564C>T",
"hgvs_p": null,
"transcript": "ENST00000495952.5",
"protein_id": null,
"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": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SURF1",
"gene_hgnc_id": 11474,
"dbsnp": "rs782190413",
"frequency_reference_population": 0.000013636966,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000116351,
"gnomad_genomes_af": 0.0000328576,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9649812579154968,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.769,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5375,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.659,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000371974.8",
"gene_symbol": "SURF1",
"hgnc_id": 11474,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp"
}
],
"clinvar_disease": " nuclear type 1,Charcot-Marie-Tooth disease type 4K,Leigh syndrome,Mitochondrial complex IV deficiency,Mitochondrial disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "not provided|Charcot-Marie-Tooth disease type 4K|Leigh syndrome|Charcot-Marie-Tooth disease type 4K;Mitochondrial complex IV deficiency, nuclear type 1|Mitochondrial disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}