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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: 12-4627349-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=4627349&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 4627349,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006422.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "NM_001278309.2",
"protein_id": "NP_001265238.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228850.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278309.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000228850.6",
"protein_id": "ENSP00000228850.1",
"transcript_support_level": 5,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278309.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228850.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272921",
"gene_hgnc_id": null,
"hgvs_c": "n.142-3973T>C",
"hgvs_p": null,
"transcript": "ENST00000536588.1",
"protein_id": "ENSP00000445121.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000536588.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "NM_006422.4",
"protein_id": "NP_006413.4",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006422.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000545990.6",
"protein_id": "ENSP00000440994.1",
"transcript_support_level": 2,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545990.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000861465.1",
"protein_id": "ENSP00000531524.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861465.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000861466.1",
"protein_id": "ENSP00000531525.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861466.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000861467.1",
"protein_id": "ENSP00000531526.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861467.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000861468.1",
"protein_id": "ENSP00000531527.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861468.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000861469.1",
"protein_id": "ENSP00000531528.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861469.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000934728.1",
"protein_id": "ENSP00000604787.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934728.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000934729.1",
"protein_id": "ENSP00000604788.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934729.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000934730.1",
"protein_id": "ENSP00000604789.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934730.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000941577.1",
"protein_id": "ENSP00000611636.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941577.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys",
"transcript": "ENST00000941578.1",
"protein_id": "ENSP00000611637.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 853,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941578.1"
}
],
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"dbsnp": "rs755068981",
"frequency_reference_population": 0.000050805895,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000540413,
"gnomad_genomes_af": 0.0000197187,
"gnomad_exomes_ac": 79,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03707346320152283,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.516,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006422.4",
"gene_symbol": "AKAP3",
"hgnc_id": 373,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Tyr518Cys"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000536588.1",
"gene_symbol": "ENSG00000272921",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.142-3973T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}