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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: 1-26775213-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26775213&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ARID1A",
"hgnc_id": 11110,
"hgvs_c": "c.4986A>G",
"hgvs_p": "p.Lys1662Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006015.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate,BP7",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27399998903274536,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2285,
"aa_ref": "K",
"aa_start": 1662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8595,
"cdna_start": 5375,
"cds_end": null,
"cds_length": 6858,
"cds_start": 4986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_006015.6",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4986A>G",
"hgvs_p": "p.Lys1662Lys",
"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": "K",
"aa_end": null,
"aa_length": 2285,
"aa_ref": "K",
"aa_start": 1662,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8595,
"cdna_start": 5375,
"cds_end": null,
"cds_length": 6858,
"cds_start": 4986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000324856.13",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4986A>G",
"hgvs_p": "p.Lys1662Lys",
"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": 1,
"exon_rank_end": null,
"feature": "ENST00000532781.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.342A>G",
"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": "K",
"aa_end": null,
"aa_length": 2275,
"aa_ref": "K",
"aa_start": 1652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8565,
"cdna_start": 5345,
"cds_end": null,
"cds_length": 6828,
"cds_start": 4956,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000850904.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4956A>G",
"hgvs_p": "p.Lys1652Lys",
"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": "K",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "K",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7944,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 6207,
"cds_start": 4335,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_139135.4",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4335A>G",
"hgvs_p": "p.Lys1445Lys",
"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": "K",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "K",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7508,
"cdna_start": 5575,
"cds_end": null,
"cds_length": 6207,
"cds_start": 4335,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000457599.7",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.4335A>G",
"hgvs_p": "p.Lys1445Lys",
"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": "K",
"aa_end": null,
"aa_length": 1903,
"aa_ref": "K",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7058,
"cdna_start": 3840,
"cds_end": null,
"cds_length": 5712,
"cds_start": 3840,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000636219.1",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.3840A>G",
"hgvs_p": "p.Lys1280Lys",
"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": "K",
"aa_end": null,
"aa_length": 1902,
"aa_ref": "K",
"aa_start": 1279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6460,
"cdna_start": 4588,
"cds_end": null,
"cds_length": 5709,
"cds_start": 3837,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000374152.7",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.3837A>G",
"hgvs_p": "p.Lys1279Lys",
"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": "K",
"aa_end": null,
"aa_length": 1901,
"aa_ref": "K",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6521,
"cdna_start": 4228,
"cds_end": null,
"cds_length": 5706,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000430799.7",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "c.3834A>G",
"hgvs_p": "p.Lys1278Lys",
"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": 1518,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000636794.2",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.*886A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520985.1",
"strand": true,
"transcript": "ENST00000636794.2",
"transcript_support_level": null
},
{
"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": 1518,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000636794.2",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.*886A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520985.1",
"strand": true,
"transcript": "ENST00000636794.2",
"transcript_support_level": null
},
{
"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": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000466382.2",
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"hgvs_c": "n.409-364A>G",
"hgvs_p": null,
"intron_rank": 4,
"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": "rs1553153328",
"effect": "synonymous_variant",
"frequency_reference_population": 6.9739286e-7,
"gene_hgnc_id": 11110,
"gene_symbol": "ARID1A",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.97393e-7,
"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": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.976,
"pos": 26775213,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.274,
"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"
}
]
}