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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: 7-151876507-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151876507&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "PRKAG2",
"hgnc_id": 9386,
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_001407021.1",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PRKAG2-AS1",
"hgnc_id": 40468,
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000765304.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7,BS1",
"acmg_score": -7,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 569,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1710,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_016203.4",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287878.9",
"protein_coding": true,
"protein_id": "NP_057287.2",
"strand": false,
"transcript": "NM_016203.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 569,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1710,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000287878.9",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016203.4",
"protein_coding": true,
"protein_id": "ENSP00000287878.3",
"strand": false,
"transcript": "ENST00000287878.9",
"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": 1413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000488258.5",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.114G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420783.1",
"strand": false,
"transcript": "ENST00000488258.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 575,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6690,
"cdna_start": null,
"cds_end": null,
"cds_length": 1728,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047420448.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.-139G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276404.1",
"strand": false,
"transcript": "XM_047420448.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 619,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1860,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001407021.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393950.1",
"strand": false,
"transcript": "NM_001407021.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 618,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6567,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1857,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001407022.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393951.1",
"strand": false,
"transcript": "NM_001407022.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1707,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001407023.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393952.1",
"strand": false,
"transcript": "NM_001407023.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1707,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000652321.2",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498886.2",
"strand": false,
"transcript": "ENST00000652321.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1704,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000867883.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537942.1",
"strand": false,
"transcript": "ENST00000867883.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1701,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000867885.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537944.1",
"strand": false,
"transcript": "ENST00000867885.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 522,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1569,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000867884.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537943.1",
"strand": false,
"transcript": "ENST00000867884.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1422,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001407030.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393959.1",
"strand": false,
"transcript": "NM_001407030.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1419,
"cds_start": 114,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001407031.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.114G>A",
"hgvs_p": "p.Pro38Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393960.1",
"strand": false,
"transcript": "NM_001407031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 575,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6690,
"cdna_start": null,
"cds_end": null,
"cds_length": 1728,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047420448.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.-139G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276404.1",
"strand": false,
"transcript": "XM_047420448.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000474383.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.282G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000474383.1",
"transcript_support_level": 2
},
{
"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": 1670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000481434.5",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.619G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000481434.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000765304.1",
"gene_hgnc_id": 40468,
"gene_symbol": "PRKAG2-AS1",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000765304.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.706826018038953,
"dbsnp": "rs397517261",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.0000031151174,
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137652,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197187,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.505,
"pos": 151876507,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.5839999914169312,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001407021.1"
}
]
}