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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: 1-161047766-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161047766&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161047766,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368013.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.3255G>T",
"hgvs_p": "p.Arg1085Ser",
"transcript": "NM_001025598.2",
"protein_id": "NP_001020769.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": "ENST00000368013.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.3255G>T",
"hgvs_p": "p.Arg1085Ser",
"transcript": "ENST00000368013.8",
"protein_id": "ENSP00000356992.3",
"transcript_support_level": 2,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": "NM_001025598.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2811G>T",
"hgvs_p": "p.Arg937Ser",
"transcript": "NM_001287600.2",
"protein_id": "NP_001274529.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 953,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3377,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2724G>T",
"hgvs_p": "p.Arg908Ser",
"transcript": "NM_001287602.2",
"protein_id": "NP_001274531.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 924,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2724G>T",
"hgvs_p": "p.Arg908Ser",
"transcript": "ENST00000368015.1",
"protein_id": "ENSP00000356994.1",
"transcript_support_level": 5,
"aa_start": 908,
"aa_end": null,
"aa_length": 924,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2622G>T",
"hgvs_p": "p.Arg874Ser",
"transcript": "NM_181720.3",
"protein_id": "NP_859071.2",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 890,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2889,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2622G>T",
"hgvs_p": "p.Arg874Ser",
"transcript": "ENST00000368016.7",
"protein_id": "ENSP00000356995.3",
"transcript_support_level": 5,
"aa_start": 874,
"aa_end": null,
"aa_length": 890,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.3084G>T",
"hgvs_p": "p.Arg1028Ser",
"transcript": "XM_005245070.3",
"protein_id": "XP_005245127.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2811G>T",
"hgvs_p": "p.Arg937Ser",
"transcript": "XM_005245073.4",
"protein_id": "XP_005245130.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 953,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2811G>T",
"hgvs_p": "p.Arg937Ser",
"transcript": "XM_011509391.3",
"protein_id": "XP_011507693.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 953,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "c.2640G>T",
"hgvs_p": "p.Arg880Ser",
"transcript": "XM_047417140.1",
"protein_id": "XP_047273096.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 896,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 4068,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"hgvs_c": "n.4037G>T",
"hgvs_p": null,
"transcript": "ENST00000461003.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"dbsnp": "rs2774279",
"frequency_reference_population": 7.074137e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.07414e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0707804262638092,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.3681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.732,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368013.8",
"gene_symbol": "ARHGAP30",
"hgnc_id": 27414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3255G>T",
"hgvs_p": "p.Arg1085Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}