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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: 1-235327076-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235327076&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARID4B",
"hgnc_id": 15550,
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_016374.6",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "GGPS1",
"hgnc_id": 4249,
"hgvs_c": "c.-445delA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001371477.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_score": -8,
"allele_count_reference_population": 340541,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6022,
"cdna_start": null,
"cds_end": null,
"cds_length": 3939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016374.6",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264183.9",
"protein_coding": true,
"protein_id": "NP_057458.4",
"strand": false,
"transcript": "NM_016374.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6022,
"cdna_start": null,
"cds_end": null,
"cds_length": 3939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264183.9",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016374.6",
"protein_coding": true,
"protein_id": "ENSP00000264183.3",
"strand": false,
"transcript": "ENST00000264183.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": null,
"cds_end": null,
"cds_length": 3939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366603.6",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-50+83delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355562.2",
"strand": false,
"transcript": "ENST00000366603.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349213.7",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264184.4",
"strand": false,
"transcript": "ENST00000349213.7",
"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": 5151,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421364.5",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "n.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394663.1",
"strand": false,
"transcript": "ENST00000421364.5",
"transcript_support_level": 1
},
{
"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": 3823,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491632.5",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "n.401-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491632.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5939,
"cdna_start": null,
"cds_end": null,
"cds_length": 3939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001206794.2",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-50+83delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193723.1",
"strand": false,
"transcript": "NM_001206794.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": null,
"cds_end": null,
"cds_length": 3873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960476.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630535.1",
"strand": false,
"transcript": "ENST00000960476.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1276,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5916,
"cdna_start": null,
"cds_end": null,
"cds_length": 3831,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938135.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608194.1",
"strand": false,
"transcript": "ENST00000938135.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031371.4",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112739.2",
"strand": false,
"transcript": "NM_031371.4",
"transcript_support_level": null
},
{
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"aa_length": 482,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": null,
"cds_end": null,
"cds_length": 1449,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000418304.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391497.1",
"strand": false,
"transcript": "ENST00000418304.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_length": 5855,
"cdna_start": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "XM_011544212.4",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011542514.1",
"strand": false,
"transcript": "XM_011544212.4",
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},
{
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"consequences": [
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],
"exon_count": 24,
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"feature": "XM_006711781.4",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006711844.1",
"strand": false,
"transcript": "XM_006711781.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "XM_047422531.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278487.1",
"strand": false,
"transcript": "XM_047422531.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "XM_024447626.2",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303394.1",
"strand": false,
"transcript": "XM_024447626.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": null,
"cds_end": null,
"cds_length": 3426,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422532.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "c.-49-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278488.1",
"strand": false,
"transcript": "XM_047422532.1",
"transcript_support_level": null
},
{
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"aa_length": null,
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"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 273,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
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"feature": "ENST00000462969.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "n.96-109delT",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462969.1",
"transcript_support_level": 2
},
{
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"biotype": "retained_intron",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000466653.1",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "n.450-109delT",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466653.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6178,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_135074.2",
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"hgvs_c": "n.412-109delT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135074.2",
"transcript_support_level": null
},
{
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"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371477.1",
"gene_hgnc_id": 4249,
"gene_symbol": "GGPS1",
"hgvs_c": "c.-445delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358406.1",
"strand": true,
"transcript": "NM_001371477.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3840452",
"effect": "intron_variant",
"frequency_reference_population": 0.45837438,
"gene_hgnc_id": 15550,
"gene_symbol": "ARID4B",
"gnomad_exomes_ac": 271873,
"gnomad_exomes_af": 0.460016,
"gnomad_exomes_homalt": 64376,
"gnomad_genomes_ac": 68668,
"gnomad_genomes_af": 0.451989,
"gnomad_genomes_homalt": 15802,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 80178,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.273,
"pos": 235327076,
"ref": "CA",
"revel_prediction": null,
"revel_score": null,
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