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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: 2-162276832-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162276832&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 162276832,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000649979.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.2159G>T",
"hgvs_p": "p.Arg720Leu",
"transcript": "NM_022168.4",
"protein_id": "NP_071451.2",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2159,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "ENST00000649979.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.2159G>T",
"hgvs_p": "p.Arg720Leu",
"transcript": "ENST00000649979.2",
"protein_id": "ENSP00000497271.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2159,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "NM_022168.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.2042G>T",
"hgvs_p": "p.Arg681Leu",
"transcript": "ENST00000648433.1",
"protein_id": "ENSP00000496816.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 986,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1847G>T",
"hgvs_p": "p.Arg616Leu",
"transcript": "ENST00000679938.1",
"protein_id": "ENSP00000505518.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 921,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "c.1442G>T",
"hgvs_p": "p.Arg481Leu",
"transcript": "XM_047445407.1",
"protein_id": "XP_047301363.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 786,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 3214,
"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": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "n.1769G>T",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "n.*1756G>T",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFIH1",
"gene_hgnc_id": 18873,
"hgvs_c": "n.*1756G>T",
"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": "rs587777445",
"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": 0.6838249564170837,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.419,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.989,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649979.2",
"gene_symbol": "IFIH1",
"hgnc_id": 18873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2159G>T",
"hgvs_p": "p.Arg720Leu"
}
],
"clinvar_disease": "Aicardi-Goutieres syndrome 7,Singleton-Merten syndrome 1,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}