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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: 1-167896633-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167896633&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADCY10",
"hgnc_id": 21285,
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018417.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DCAF6",
"hgnc_id": 30002,
"hgvs_c": "c.-345+32795G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "XM_047425194.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1315,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10402128100395203,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5342,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4833,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018417.6",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367851.9",
"protein_coding": true,
"protein_id": "NP_060887.2",
"strand": false,
"transcript": "NM_018417.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5342,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4833,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367851.9",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018417.6",
"protein_coding": true,
"protein_id": "ENSP00000356825.4",
"strand": false,
"transcript": "ENST00000367851.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5055,
"cdna_start": 923,
"cds_end": null,
"cds_length": 4557,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367848.1",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Thr142Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356822.1",
"strand": false,
"transcript": "ENST00000367848.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5379,
"cdna_start": 955,
"cds_end": null,
"cds_length": 4557,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001297772.2",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Thr142Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284701.1",
"strand": false,
"transcript": "NM_001297772.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1457,
"aa_ref": "T",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4887,
"cdna_start": 463,
"cds_end": null,
"cds_length": 4374,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001167749.3",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.242C>A",
"hgvs_p": "p.Thr81Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161221.1",
"strand": false,
"transcript": "NM_001167749.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1457,
"aa_ref": "T",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": 544,
"cds_end": null,
"cds_length": 4374,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000545172.5",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.242C>A",
"hgvs_p": "p.Thr81Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441992.1",
"strand": false,
"transcript": "ENST00000545172.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 4833,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011509760.4",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508062.1",
"strand": false,
"transcript": "XM_011509760.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "T",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 774,
"cds_end": null,
"cds_length": 4689,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011509762.4",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Thr186Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508064.1",
"strand": false,
"transcript": "XM_011509762.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5180,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4671,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011509763.4",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508065.1",
"strand": false,
"transcript": "XM_011509763.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4644,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006711449.5",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711512.1",
"strand": false,
"transcript": "XM_006711449.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": 918,
"cds_end": null,
"cds_length": 4416,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047425153.1",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281109.1",
"strand": false,
"transcript": "XM_047425153.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 918,
"cds_end": null,
"cds_length": 3654,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017001778.3",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857267.1",
"strand": false,
"transcript": "XM_017001778.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 918,
"cds_end": null,
"cds_length": 3612,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005245330.6",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245387.1",
"strand": false,
"transcript": "XM_005245330.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4142,
"cdna_start": 918,
"cds_end": null,
"cds_length": 3318,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011509766.4",
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"hgvs_c": "c.701C>A",
"hgvs_p": "p.Thr234Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508068.1",
"strand": false,
"transcript": "XM_011509766.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": null,
"cds_end": null,
"cds_length": 2415,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425194.1",
"gene_hgnc_id": 30002,
"gene_symbol": "DCAF6",
"hgvs_c": "c.-345+32795G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281150.1",
"strand": true,
"transcript": "XM_047425194.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs16859886",
"effect": "missense_variant",
"frequency_reference_population": 6.8448986e-7,
"gene_hgnc_id": 21285,
"gene_symbol": "ADCY10",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.8449e-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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.515,
"pos": 167896633,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.134,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.20000000298023224,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.2,
"transcript": "NM_018417.6"
}
]
}