← Back to variant description
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: 10-97578382-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97578382&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97578382,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001291218.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Pro111Arg",
"transcript": "NM_001346793.2",
"protein_id": "NP_001333722.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 333,
"cds_start": 332,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370655.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346793.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Pro111Arg",
"transcript": "ENST00000370655.6",
"protein_id": "ENSP00000359689.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 333,
"cds_start": 332,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001346793.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370655.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Pro138Arg",
"transcript": "ENST00000307518.9",
"protein_id": "ENSP00000306163.5",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 360,
"cds_start": 413,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307518.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Pro138Arg",
"transcript": "ENST00000298808.9",
"protein_id": "ENSP00000298808.5",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 327,
"cds_start": 413,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298808.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Pro111Arg",
"transcript": "ENST00000455090.1",
"protein_id": "ENSP00000403114.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 300,
"cds_start": 332,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455090.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Pro224Arg",
"transcript": "NM_001291218.2",
"protein_id": "NP_001278147.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 446,
"cds_start": 671,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291218.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.473C>G",
"hgvs_p": "p.Pro158Arg",
"transcript": "ENST00000960741.1",
"protein_id": "ENSP00000630800.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 380,
"cds_start": 473,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960741.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Pro138Arg",
"transcript": "NM_020349.4",
"protein_id": "NP_065082.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 360,
"cds_start": 413,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020349.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.365C>G",
"hgvs_p": "p.Pro122Arg",
"transcript": "ENST00000960742.1",
"protein_id": "ENSP00000630801.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 344,
"cds_start": 365,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960742.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.326C>G",
"hgvs_p": "p.Pro109Arg",
"transcript": "ENST00000909341.1",
"protein_id": "ENSP00000579400.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 331,
"cds_start": 326,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909341.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Pro138Arg",
"transcript": "NM_001129981.3",
"protein_id": "NP_001123453.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 327,
"cds_start": 413,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129981.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Pro111Arg",
"transcript": "NM_001291219.3",
"protein_id": "NP_001278148.2",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 300,
"cds_start": 332,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291219.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Pro111Arg",
"transcript": "ENST00000960743.1",
"protein_id": "ENSP00000630802.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 300,
"cds_start": 332,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960743.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.230C>G",
"hgvs_p": "p.Pro77Arg",
"transcript": "ENST00000960744.1",
"protein_id": "ENSP00000630803.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 299,
"cds_start": 230,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960744.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Pro111Arg",
"transcript": "ENST00000909340.1",
"protein_id": "ENSP00000579399.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 267,
"cds_start": 332,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909340.1"
}
],
"gene_symbol": "ANKRD2",
"gene_hgnc_id": 495,
"dbsnp": "rs751301897",
"frequency_reference_population": 0.0000012394015,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84187e-7,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40609118342399597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.3,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001291218.2",
"gene_symbol": "ANKRD2",
"hgnc_id": 495,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.671C>G",
"hgvs_p": "p.Pro224Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}