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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: 1-26773690-C-CGCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26773690&ref=C&alt=CGCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26773690,
"ref": "C",
"alt": "CGCA",
"effect": "disruptive_inframe_insertion,splice_region_variant",
"transcript": "NM_006015.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3999_4001dupGCA",
"hgvs_p": "p.Gln1334dup",
"transcript": "NM_006015.6",
"protein_id": "NP_006006.3",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 2285,
"cds_start": 4002,
"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": "Q",
"aa_alt": "QQ",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3999_4001dupGCA",
"hgvs_p": "p.Gln1334dup",
"transcript": "ENST00000324856.13",
"protein_id": "ENSP00000320485.7",
"transcript_support_level": 1,
"aa_start": 1334,
"aa_end": null,
"aa_length": 2285,
"cds_start": 4002,
"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": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3969_3971dupGCA",
"hgvs_p": "p.Gln1324dup",
"transcript": "ENST00000850904.1",
"protein_id": "ENSP00000520984.1",
"transcript_support_level": null,
"aa_start": 1324,
"aa_end": null,
"aa_length": 2275,
"cds_start": 3972,
"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": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3999_4001dupGCA",
"hgvs_p": "p.Gln1334dup",
"transcript": "NM_139135.4",
"protein_id": "NP_624361.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 2068,
"cds_start": 4002,
"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": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.3999_4001dupGCA",
"hgvs_p": "p.Gln1334dup",
"transcript": "ENST00000457599.7",
"protein_id": "ENSP00000387636.2",
"transcript_support_level": 5,
"aa_start": 1334,
"aa_end": null,
"aa_length": 2068,
"cds_start": 4002,
"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": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.2853_2855dupGCA",
"hgvs_p": "p.Gln952dup",
"transcript": "ENST00000636219.1",
"protein_id": "ENSP00000489842.1",
"transcript_support_level": 5,
"aa_start": 952,
"aa_end": null,
"aa_length": 1903,
"cds_start": 2856,
"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": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.2850_2852dupGCA",
"hgvs_p": "p.Gln951dup",
"transcript": "ENST00000374152.7",
"protein_id": "ENSP00000363267.2",
"transcript_support_level": 5,
"aa_start": 951,
"aa_end": null,
"aa_length": 1902,
"cds_start": 2853,
"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": "Q",
"aa_alt": "QQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "c.2847_2849dupGCA",
"hgvs_p": "p.Gln950dup",
"transcript": "ENST00000430799.7",
"protein_id": "ENSP00000390317.3",
"transcript_support_level": 5,
"aa_start": 950,
"aa_end": null,
"aa_length": 1901,
"cds_start": 2850,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.306_308dupGCA",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.392_394dupGCA",
"hgvs_p": null,
"transcript": "ENST00000636072.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000636072.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"hgvs_c": "n.303_305dupGCA",
"hgvs_p": null,
"transcript": "ENST00000636794.2",
"protein_id": "ENSP00000520985.1",
"transcript_support_level": null,
"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": "ENST00000636794.2"
}
],
"gene_symbol": "ARID1A",
"gene_hgnc_id": 11110,
"dbsnp": "rs374564889",
"frequency_reference_population": 0.0027477397,
"hom_count_reference_population": 25,
"allele_count_reference_population": 4433,
"gnomad_exomes_af": 0.00276881,
"gnomad_genomes_af": 0.00254528,
"gnomad_exomes_ac": 4046,
"gnomad_genomes_ac": 387,
"gnomad_exomes_homalt": 21,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.647,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006015.6",
"gene_symbol": "ARID1A",
"hgnc_id": 11110,
"effects": [
"disruptive_inframe_insertion",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3999_4001dupGCA",
"hgvs_p": "p.Gln1334dup"
}
],
"clinvar_disease": " autosomal dominant 14,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "not provided|Intellectual disability, autosomal dominant 14|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}