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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: 1-26779242-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26779242&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARID1A",
"hgnc_id": 11110,
"hgvs_c": "c.5344G>C",
"hgvs_p": "p.Val1782Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_006015.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0807,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11230358481407166,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2285,
"aa_ref": "V",
"aa_start": 1782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8595,
"cdna_start": 5733,
"cds_end": null,
"cds_length": 6858,
"cds_start": 5344,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_006015.6",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.5344G>C",
"hgvs_p": "p.Val1782Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324856.13",
"protein_coding": true,
"protein_id": "NP_006006.3",
"strand": true,
"transcript": "NM_006015.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2285,
"aa_ref": "V",
"aa_start": 1782,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8595,
"cdna_start": 5733,
"cds_end": null,
"cds_length": 6858,
"cds_start": 5344,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000324856.13",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.5344G>C",
"hgvs_p": "p.Val1782Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006015.6",
"protein_coding": true,
"protein_id": "ENSP00000320485.7",
"strand": true,
"transcript": "ENST00000324856.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532781.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.*276G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436692.1",
"strand": true,
"transcript": "ENST00000532781.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532781.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.*276G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436692.1",
"strand": true,
"transcript": "ENST00000532781.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2275,
"aa_ref": "V",
"aa_start": 1772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8565,
"cdna_start": 5703,
"cds_end": null,
"cds_length": 6828,
"cds_start": 5314,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000850904.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.5314G>C",
"hgvs_p": "p.Val1772Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520984.1",
"strand": true,
"transcript": "ENST00000850904.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "V",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7944,
"cdna_start": 5082,
"cds_end": null,
"cds_length": 6207,
"cds_start": 4693,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_139135.4",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4693G>C",
"hgvs_p": "p.Val1565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_624361.1",
"strand": true,
"transcript": "NM_139135.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "V",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7508,
"cdna_start": 5933,
"cds_end": null,
"cds_length": 6207,
"cds_start": 4693,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000457599.7",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4693G>C",
"hgvs_p": "p.Val1565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387636.2",
"strand": true,
"transcript": "ENST00000457599.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1903,
"aa_ref": "V",
"aa_start": 1400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7058,
"cdna_start": 4198,
"cds_end": null,
"cds_length": 5712,
"cds_start": 4198,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000636219.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4198G>C",
"hgvs_p": "p.Val1400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489842.1",
"strand": true,
"transcript": "ENST00000636219.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1902,
"aa_ref": "V",
"aa_start": 1399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6460,
"cdna_start": 4946,
"cds_end": null,
"cds_length": 5709,
"cds_start": 4195,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000374152.7",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4195G>C",
"hgvs_p": "p.Val1399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363267.2",
"strand": true,
"transcript": "ENST00000374152.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1901,
"aa_ref": "V",
"aa_start": 1398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6521,
"cdna_start": 4586,
"cds_end": null,
"cds_length": 5706,
"cds_start": 4192,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000430799.7",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4192G>C",
"hgvs_p": "p.Val1398Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390317.3",
"strand": true,
"transcript": "ENST00000430799.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000466382.2",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.*327G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432368.1",
"strand": true,
"transcript": "ENST00000466382.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000637788.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.1144G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000637788.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000466382.2",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.*327G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432368.1",
"strand": true,
"transcript": "ENST00000466382.2",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs775923229",
"effect": "missense_variant",
"frequency_reference_population": 0.000004104433,
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410443,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Inborn genetic diseases|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.451,
"pos": 26779242,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.042,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006015.6"
}
]
}