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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: 1-26779863-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26779863&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26779863,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006015.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5965C>G",
"hgvs_p": "p.Arg1989Gly",
"transcript": "NM_006015.6",
"protein_id": "NP_006006.3",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2285,
"cds_start": 5965,
"cds_end": null,
"cds_length": 6858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324856.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006015.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5965C>G",
"hgvs_p": "p.Arg1989Gly",
"transcript": "ENST00000324856.13",
"protein_id": "ENSP00000320485.7",
"transcript_support_level": 1,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2285,
"cds_start": 5965,
"cds_end": null,
"cds_length": 6858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006015.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324856.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*897C>G",
"hgvs_p": null,
"transcript": "ENST00000532781.1",
"protein_id": "ENSP00000436692.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*897C>G",
"hgvs_p": null,
"transcript": "ENST00000532781.1",
"protein_id": "ENSP00000436692.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532781.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5935C>G",
"hgvs_p": "p.Arg1979Gly",
"transcript": "ENST00000850904.1",
"protein_id": "ENSP00000520984.1",
"transcript_support_level": null,
"aa_start": 1979,
"aa_end": null,
"aa_length": 2275,
"cds_start": 5935,
"cds_end": null,
"cds_length": 6828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850904.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5314C>G",
"hgvs_p": "p.Arg1772Gly",
"transcript": "NM_139135.4",
"protein_id": "NP_624361.1",
"transcript_support_level": null,
"aa_start": 1772,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5314,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139135.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.5314C>G",
"hgvs_p": "p.Arg1772Gly",
"transcript": "ENST00000457599.7",
"protein_id": "ENSP00000387636.2",
"transcript_support_level": 5,
"aa_start": 1772,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5314,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457599.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.4819C>G",
"hgvs_p": "p.Arg1607Gly",
"transcript": "ENST00000636219.1",
"protein_id": "ENSP00000489842.1",
"transcript_support_level": 5,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1903,
"cds_start": 4819,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636219.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.4816C>G",
"hgvs_p": "p.Arg1606Gly",
"transcript": "ENST00000374152.7",
"protein_id": "ENSP00000363267.2",
"transcript_support_level": 5,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1902,
"cds_start": 4816,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374152.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.4813C>G",
"hgvs_p": "p.Arg1605Gly",
"transcript": "ENST00000430799.7",
"protein_id": "ENSP00000390317.3",
"transcript_support_level": 5,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1901,
"cds_start": 4813,
"cds_end": null,
"cds_length": 5706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430799.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*948C>G",
"hgvs_p": null,
"transcript": "ENST00000466382.2",
"protein_id": "ENSP00000432368.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466382.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.1765C>G",
"hgvs_p": null,
"transcript": "ENST00000637788.1",
"protein_id": null,
"transcript_support_level": 6,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000637788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.*948C>G",
"hgvs_p": null,
"transcript": "ENST00000466382.2",
"protein_id": "ENSP00000432368.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466382.2"
}
],
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"dbsnp": "rs879255270",
"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": 0.9224987030029297,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.622,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.794,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006015.6",
"gene_symbol": "ARID1A",
"hgnc_id": 11110,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5965C>G",
"hgvs_p": "p.Arg1989Gly"
}
],
"clinvar_disease": " autosomal dominant 14,Intellectual disability",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability, autosomal dominant 14",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}