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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: 8-60678791-A-GGCGGCAGCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=60678791&ref=A&alt=GGCGGCAGCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 60678791,
"ref": "A",
"alt": "GGCGGCAGCG",
"effect": "5_prime_UTR_variant",
"transcript": "NM_017780.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "NM_017780.4",
"protein_id": "NP_060250.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2997,
"cds_start": -4,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11606,
"mane_select": "ENST00000423902.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "ENST00000423902.7",
"protein_id": "ENSP00000392028.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2997,
"cds_start": -4,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11606,
"mane_select": "NM_017780.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.48delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "ENST00000695848.1",
"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": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.48delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "ENST00000695849.1",
"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": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "ENST00000695853.1",
"protein_id": "ENSP00000512218.1",
"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": 10902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "ENST00000695853.1",
"protein_id": "ENSP00000512218.1",
"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": 10902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_011517553.3",
"protein_id": "XP_011515855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3027,
"cds_start": -4,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_011517555.3",
"protein_id": "XP_011515857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3026,
"cds_start": -4,
"cds_end": null,
"cds_length": 9081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_017013613.2",
"protein_id": "XP_016869102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2996,
"cds_start": -4,
"cds_end": null,
"cds_length": 8991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_047421945.1",
"protein_id": "XP_047277901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2953,
"cds_start": -4,
"cds_end": null,
"cds_length": 8862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_047421946.1",
"protein_id": "XP_047277902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2952,
"cds_start": -4,
"cds_end": null,
"cds_length": 8859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_047421947.1",
"protein_id": "XP_047277903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2922,
"cds_start": -4,
"cds_end": null,
"cds_length": 8769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null,
"transcript": "XM_011517560.3",
"protein_id": "XP_011515862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": -4,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"dbsnp": "rs886063026",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.706,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_017780.4",
"gene_symbol": "CHD7",
"hgnc_id": 20626,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-466delAinsGGCGGCAGCG",
"hgvs_p": null
}
],
"clinvar_disease": "CHARGE syndrome,Hypogonadism with anosmia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "CHARGE syndrome|Hypogonadism with anosmia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}