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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: 1-161047762-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161047762&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161047762,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001025598.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"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.3259T>G",
"hgvs_p": "p.Tyr1087Asp",
"transcript": "NM_001025598.2",
"protein_id": "NP_001020769.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": "ENST00000368013.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025598.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.3259T>G",
"hgvs_p": "p.Tyr1087Asp",
"transcript": "ENST00000368013.8",
"protein_id": "ENSP00000356992.3",
"transcript_support_level": 2,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": "NM_001025598.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368013.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2815T>G",
"hgvs_p": "p.Tyr939Asp",
"transcript": "NM_001287600.2",
"protein_id": "NP_001274529.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 953,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287600.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2728T>G",
"hgvs_p": "p.Tyr910Asp",
"transcript": "NM_001287602.2",
"protein_id": "NP_001274531.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 924,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287602.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2728T>G",
"hgvs_p": "p.Tyr910Asp",
"transcript": "ENST00000368015.1",
"protein_id": "ENSP00000356994.1",
"transcript_support_level": 5,
"aa_start": 910,
"aa_end": null,
"aa_length": 924,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368015.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2626T>G",
"hgvs_p": "p.Tyr876Asp",
"transcript": "NM_181720.3",
"protein_id": "NP_859071.2",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 890,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181720.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2626T>G",
"hgvs_p": "p.Tyr876Asp",
"transcript": "ENST00000368016.7",
"protein_id": "ENSP00000356995.3",
"transcript_support_level": 5,
"aa_start": 876,
"aa_end": null,
"aa_length": 890,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368016.7"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.3088T>G",
"hgvs_p": "p.Tyr1030Asp",
"transcript": "XM_005245070.3",
"protein_id": "XP_005245127.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3355,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245070.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2815T>G",
"hgvs_p": "p.Tyr939Asp",
"transcript": "XM_005245073.4",
"protein_id": "XP_005245130.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 953,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3278,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245073.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2815T>G",
"hgvs_p": "p.Tyr939Asp",
"transcript": "XM_011509391.3",
"protein_id": "XP_011507693.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 953,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509391.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.2644T>G",
"hgvs_p": "p.Tyr882Asp",
"transcript": "XM_047417140.1",
"protein_id": "XP_047273096.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 896,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417140.1"
},
{
"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.4041T>G",
"hgvs_p": null,
"transcript": "ENST00000461003.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461003.5"
}
],
"gene_symbol": "ARHGAP30",
"gene_hgnc_id": 27414,
"dbsnp": "rs773900067",
"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": 0.6862733960151672,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.5316,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.985,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001025598.2",
"gene_symbol": "ARHGAP30",
"hgnc_id": 27414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3259T>G",
"hgvs_p": "p.Tyr1087Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}