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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: 2-162277463-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162277463&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 162277463,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000649979.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1996C>G",
"hgvs_p": "p.Pro666Ala",
"transcript": "NM_022168.4",
"protein_id": "NP_071451.2",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1025,
"cds_start": 1996,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "ENST00000649979.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1996C>G",
"hgvs_p": "p.Pro666Ala",
"transcript": "ENST00000649979.2",
"protein_id": "ENSP00000497271.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1025,
"cds_start": 1996,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "NM_022168.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1879C>G",
"hgvs_p": "p.Pro627Ala",
"transcript": "ENST00000648433.1",
"protein_id": "ENSP00000496816.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 986,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1684C>G",
"hgvs_p": "p.Pro562Ala",
"transcript": "ENST00000679938.1",
"protein_id": "ENSP00000505518.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 921,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1279C>G",
"hgvs_p": "p.Pro427Ala",
"transcript": "XM_047445407.1",
"protein_id": "XP_047301363.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 786,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4259,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "n.1606C>G",
"hgvs_p": null,
"transcript": "ENST00000649554.1",
"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": 2795,
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "n.*1593C>G",
"hgvs_p": null,
"transcript": "ENST00000697291.1",
"protein_id": "ENSP00000513228.1",
"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": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "n.*1593C>G",
"hgvs_p": null,
"transcript": "ENST00000697291.1",
"protein_id": "ENSP00000513228.1",
"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": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"dbsnp": "rs376074455",
"frequency_reference_population": 0.0000013731567,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137316,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03750291466712952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.254,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649979.2",
"gene_symbol": "IFIH1",
"hgnc_id": 18873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1996C>G",
"hgvs_p": "p.Pro666Ala"
}
],
"clinvar_disease": "Aicardi-Goutieres syndrome 7,Singleton-Merten syndrome 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}