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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: 1-1419135-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1419135&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1419135,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000537107.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Glu389Gln",
"transcript": "NM_001145210.3",
"protein_id": "NP_001138682.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 399,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": "ENST00000537107.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Glu389Gln",
"transcript": "ENST00000537107.6",
"protein_id": "ENSP00000445688.1",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 399,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": "NM_001145210.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*99G>C",
"hgvs_p": null,
"transcript": "ENST00000427211.3",
"protein_id": "ENSP00000428419.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*407G>C",
"hgvs_p": null,
"transcript": "ENST00000520296.5",
"protein_id": "ENSP00000429035.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": -4,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Glu389Gln",
"transcript": "ENST00000454272.2",
"protein_id": "ENSP00000482314.1",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 399,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Glu389Gln",
"transcript": "XM_005244752.5",
"protein_id": "XP_005244809.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 399,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Glu389Gln",
"transcript": "XM_006710647.4",
"protein_id": "XP_006710710.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 399,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*99G>C",
"hgvs_p": null,
"transcript": "NM_001243535.2",
"protein_id": "NP_001230464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*99G>C",
"hgvs_p": null,
"transcript": "NM_001375659.1",
"protein_id": "NP_001362588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*407G>C",
"hgvs_p": null,
"transcript": "NM_001243536.2",
"protein_id": "NP_001230465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": -4,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*407G>C",
"hgvs_p": null,
"transcript": "NM_001375660.1",
"protein_id": "NP_001362589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": -4,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"hgvs_c": "c.*99G>C",
"hgvs_p": null,
"transcript": "ENST00000442470.1",
"protein_id": "ENSP00000428201.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD65",
"gene_hgnc_id": 42950,
"dbsnp": "rs904589",
"frequency_reference_population": 0.12721312,
"hom_count_reference_population": 29030,
"allele_count_reference_population": 194632,
"gnomad_exomes_af": 0.110039,
"gnomad_genomes_af": 0.282739,
"gnomad_exomes_ac": 151615,
"gnomad_genomes_ac": 43017,
"gnomad_exomes_homalt": 16734,
"gnomad_genomes_homalt": 12296,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000016248279735009419,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.244,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000537107.6",
"gene_symbol": "ANKRD65",
"hgnc_id": 42950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Glu389Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}