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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: 11-17372437-ACCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17372437&ref=ACCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17372437,
"ref": "ACCT",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001202439.3",
"consequences": [
{
"aa_ref": "PP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"hgvs_c": "c.1296_1298delTCC",
"hgvs_p": "p.Pro433del",
"transcript": "NM_001202439.3",
"protein_id": "NP_001189368.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 454,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338965.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202439.3"
},
{
"aa_ref": "PP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"hgvs_c": "c.1296_1298delTCC",
"hgvs_p": "p.Pro433del",
"transcript": "ENST00000338965.9",
"protein_id": "ENSP00000341637.4",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 454,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001202439.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338965.9"
},
{
"aa_ref": "PP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"hgvs_c": "c.1296_1298delTCC",
"hgvs_p": "p.Pro433del",
"transcript": "XM_047426906.1",
"protein_id": "XP_047282862.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 454,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426906.1"
},
{
"aa_ref": "PP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"hgvs_c": "c.1209_1211delTCC",
"hgvs_p": "p.Pro404del",
"transcript": "XM_011520074.4",
"protein_id": "XP_011518376.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 425,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520074.4"
},
{
"aa_ref": "PP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"hgvs_c": "c.1209_1211delTCC",
"hgvs_p": "p.Pro404del",
"transcript": "XM_011520075.4",
"protein_id": "XP_011518377.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 425,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520075.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.*51-6138_*51-6136delAGG",
"hgvs_p": null,
"transcript": "ENST00000682764.1",
"protein_id": "ENSP00000506780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"hgvs_c": "n.1296_1298delTCC",
"hgvs_p": null,
"transcript": "ENST00000530403.1",
"protein_id": "ENSP00000434394.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530403.1"
}
],
"gene_symbol": "NCR3LG1",
"gene_hgnc_id": 42400,
"dbsnp": "rs567313382",
"frequency_reference_population": 0.0027605295,
"hom_count_reference_population": 6,
"allele_count_reference_population": 1941,
"gnomad_exomes_af": 0.00279498,
"gnomad_genomes_af": 0.00263576,
"gnomad_exomes_ac": 1540,
"gnomad_genomes_ac": 401,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.206,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001202439.3",
"gene_symbol": "NCR3LG1",
"hgnc_id": 42400,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1296_1298delTCC",
"hgvs_p": "p.Pro433del"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000682764.1",
"gene_symbol": "KCNJ11",
"hgnc_id": 6257,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*51-6138_*51-6136delAGG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}