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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: 15-85639447-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=85639447&ref=C&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",
"splice_region_variant"
],
"gene_symbol": "AKAP13",
"hgnc_id": 371,
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006738.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AKAP13-AS1",
"hgnc_id": 55975,
"hgvs_c": "n.265-19429G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000558980.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.091,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21868246793746948,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2813,
"aa_ref": "P",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13327,
"cdna_start": 4442,
"cds_end": null,
"cds_length": 8442,
"cds_start": 4235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 37,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_007200.5",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394518.7",
"protein_coding": true,
"protein_id": "NP_009131.2",
"strand": true,
"transcript": "NM_007200.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2813,
"aa_ref": "P",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13327,
"cdna_start": 4442,
"cds_end": null,
"cds_length": 8442,
"cds_start": 4235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 37,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000394518.7",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007200.5",
"protein_coding": true,
"protein_id": "ENSP00000378026.3",
"strand": true,
"transcript": "ENST00000394518.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "P",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9468,
"cdna_start": 4316,
"cds_end": null,
"cds_length": 8454,
"cds_start": 4235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 37,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361243.6",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354718.2",
"strand": true,
"transcript": "ENST00000361243.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 966,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 551,
"cds_end": null,
"cds_length": 2901,
"cds_start": 155,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000560676.5",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481485.1",
"strand": true,
"transcript": "ENST00000560676.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "P",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13339,
"cdna_start": 4442,
"cds_end": null,
"cds_length": 8454,
"cds_start": 4235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 37,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006738.6",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006729.4",
"strand": true,
"transcript": "NM_006738.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2795,
"aa_ref": "P",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13269,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 8388,
"cds_start": 4235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 36,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915939.1",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585998.1",
"strand": true,
"transcript": "ENST00000915939.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1744,
"aa_ref": "P",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 4458,
"cds_end": null,
"cds_length": 5236,
"cds_start": 4235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000559362.5",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.4235C>T",
"hgvs_p": "p.Pro1412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453768.1",
"strand": true,
"transcript": "ENST00000559362.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9128,
"cdna_start": 297,
"cds_end": null,
"cds_length": 4305,
"cds_start": 155,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001270546.1",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257475.1",
"strand": true,
"transcript": "NM_001270546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9128,
"cdna_start": 297,
"cds_end": null,
"cds_length": 4305,
"cds_start": 155,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000394510.6",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378018.3",
"strand": true,
"transcript": "ENST00000394510.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 83,
"cds_end": null,
"cds_length": 4290,
"cds_start": 83,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000560579.5",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Pro28Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477780.1",
"strand": true,
"transcript": "ENST00000560579.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 97,
"aa_ref": "P",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": 451,
"cds_end": null,
"cds_length": 296,
"cds_start": 194,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000560340.5",
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483091.1",
"strand": true,
"transcript": "ENST00000560340.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558980.1",
"gene_hgnc_id": 55975,
"gene_symbol": "AKAP13-AS1",
"hgvs_c": "n.265-19429G>A",
"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": "ENST00000558980.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.575166034692979,
"dbsnp": null,
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 371,
"gene_symbol": "AKAP13",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.124,
"pos": 85639447,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.143,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.335999995470047,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006738.6"
}
]
}