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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: 1-160950641-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160950641&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160950641,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080878.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Gln171Arg",
"transcript": "NM_080878.3",
"protein_id": "NP_543154.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 325,
"cds_start": 512,
"cds_end": null,
"cds_length": 978,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": "ENST00000368029.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080878.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"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": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Gln171Arg",
"transcript": "ENST00000368029.4",
"protein_id": "ENSP00000357008.3",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 325,
"cds_start": 512,
"cds_end": null,
"cds_length": 978,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": "NM_080878.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368029.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Gln170Arg",
"transcript": "ENST00000934771.1",
"protein_id": "ENSP00000604830.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 324,
"cds_start": 509,
"cds_end": null,
"cds_length": 975,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934771.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"transcript": "ENST00000934772.1",
"protein_id": "ENSP00000604831.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 295,
"cds_start": 422,
"cds_end": null,
"cds_length": 888,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934772.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Gln170Arg",
"transcript": "XM_024453321.2",
"protein_id": "XP_024309089.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 324,
"cds_start": 509,
"cds_end": null,
"cds_length": 975,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453321.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "n.503A>G",
"hgvs_p": null,
"transcript": "ENST00000490489.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN2",
"gene_hgnc_id": 20599,
"hgvs_c": "n.372A>G",
"hgvs_p": null,
"transcript": "ENST00000494442.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494442.1"
}
],
"gene_symbol": "ITLN2",
"gene_hgnc_id": 20599,
"dbsnp": "rs12090411",
"frequency_reference_population": 0.0055742646,
"hom_count_reference_population": 427,
"allele_count_reference_population": 8998,
"gnomad_exomes_af": 0.00307893,
"gnomad_genomes_af": 0.0295207,
"gnomad_exomes_ac": 4501,
"gnomad_genomes_ac": 4497,
"gnomad_exomes_homalt": 192,
"gnomad_genomes_homalt": 235,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020904541015625,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.0843,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.695,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_080878.3",
"gene_symbol": "ITLN2",
"hgnc_id": 20599,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Gln171Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}