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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: 1-243598997-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243598997&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243598997,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000673466.1",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "NM_005465.7",
"protein_id": "NP_005456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "ENST00000673466.1",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000673466.1",
"protein_id": "ENSP00000500582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "NM_005465.7",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000263826.12",
"protein_id": "ENSP00000263826.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1583,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000336199.9",
"protein_id": "ENSP00000336943.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1688,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000366540.5",
"protein_id": "ENSP00000355498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1575,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "NM_001370074.1",
"protein_id": "NP_001357003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7108,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "NM_001206729.2",
"protein_id": "NP_001193658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1570,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "NM_181690.2",
"protein_id": "NP_859029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.627+16099A>G",
"hgvs_p": null,
"transcript": "ENST00000366539.6",
"protein_id": "ENSP00000355497.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4967,
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.570+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000680056.1",
"protein_id": "ENSP00000505337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1314,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.513+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000672578.1",
"protein_id": "ENSP00000500597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
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"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.453+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000672460.1",
"protein_id": "ENSP00000499842.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.696+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000680118.1",
"protein_id": "ENSP00000505276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "n.696+14674A>G",
"hgvs_p": null,
"transcript": "ENST00000681794.1",
"protein_id": "ENSP00000506399.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "XM_047415643.1",
"protein_id": "XP_047271599.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.513+14674A>G",
"hgvs_p": null,
"transcript": "XM_047417359.1",
"protein_id": "XP_047273315.1",
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},
{
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"intron_variant"
],
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"intron_rank": 11,
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"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.513+14674A>G",
"hgvs_p": null,
"transcript": "XM_047419186.1",
"protein_id": "XP_047275142.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.513+14674A>G",
"hgvs_p": null,
"transcript": "XM_047420641.1",
"protein_id": "XP_047276597.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.513+14674A>G",
"hgvs_p": null,
"transcript": "XM_047422391.1",
"protein_id": "XP_047278347.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "AKT3",
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"hgvs_c": "c.513+14674A>G",
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},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.696+14674A>G",
"hgvs_p": null,
"transcript": "XM_024446892.2",
"protein_id": "XP_024302660.1",
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"feature": null
}
],
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"dbsnp": "rs2125231",
"frequency_reference_population": 0.52664316,
"hom_count_reference_population": 24342,
"allele_count_reference_population": 80015,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.526643,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 80015,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 24342,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.134,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000673466.1",
"gene_symbol": "AKT3",
"hgnc_id": 393,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.696+14674A>G",
"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
}