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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: 1-235170778-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235170778&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235170778,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000264183.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3811+1840G>T",
"hgvs_p": null,
"transcript": "NM_016374.6",
"protein_id": "NP_057458.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": "ENST00000264183.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3811+1840G>T",
"hgvs_p": null,
"transcript": "ENST00000264183.9",
"protein_id": "ENSP00000264183.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": "NM_016374.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3811+1840G>T",
"hgvs_p": null,
"transcript": "ENST00000366603.6",
"protein_id": "ENSP00000355562.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3553+1840G>T",
"hgvs_p": null,
"transcript": "ENST00000349213.7",
"protein_id": "ENSP00000264184.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "n.*505+1840G>T",
"hgvs_p": null,
"transcript": "ENST00000421364.5",
"protein_id": "ENSP00000394663.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3811+1840G>T",
"hgvs_p": null,
"transcript": "NM_001206794.2",
"protein_id": "NP_001193723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3553+1840G>T",
"hgvs_p": null,
"transcript": "NM_031371.4",
"protein_id": "NP_112739.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "n.1750+1840G>T",
"hgvs_p": null,
"transcript": "ENST00000474953.5",
"protein_id": "ENSP00000420620.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "n.4427+1840G>T",
"hgvs_p": null,
"transcript": "NR_135074.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3811+1840G>T",
"hgvs_p": null,
"transcript": "XM_011544212.4",
"protein_id": "XP_011542514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3703+1840G>T",
"hgvs_p": null,
"transcript": "XM_006711781.4",
"protein_id": "XP_006711844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1276,
"cds_start": -4,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3703+1840G>T",
"hgvs_p": null,
"transcript": "XM_047422531.1",
"protein_id": "XP_047278487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1276,
"cds_start": -4,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.3553+1840G>T",
"hgvs_p": null,
"transcript": "XM_024447626.2",
"protein_id": "XP_024303394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.2932+1840G>T",
"hgvs_p": null,
"transcript": "XM_017001472.2",
"protein_id": "XP_016856961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "c.2674+1840G>T",
"hgvs_p": null,
"transcript": "XM_047422533.1",
"protein_id": "XP_047278489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": -4,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"dbsnp": "rs6666401",
"frequency_reference_population": 0.0000066187467,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000661875,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.094,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000264183.9",
"gene_symbol": "ARID4B",
"hgnc_id": 15550,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3811+1840G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}