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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: 17-30923063-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30923063&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30923063,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018404.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "NM_018404.3",
"protein_id": "NP_060874.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 381,
"cds_start": 218,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": "ENST00000330889.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000330889.8",
"protein_id": "ENSP00000329468.3",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 381,
"cds_start": 218,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": "NM_018404.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000580525.6",
"protein_id": "ENSP00000464121.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 387,
"cds_start": 218,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"transcript": "XM_024450835.2",
"protein_id": "XP_024306603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "NM_001346712.2",
"protein_id": "NP_001333641.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 387,
"cds_start": 218,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "NM_001346714.2",
"protein_id": "NP_001333643.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 380,
"cds_start": 218,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "NM_001346716.2",
"protein_id": "NP_001333645.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 355,
"cds_start": 218,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000581285.5",
"protein_id": "ENSP00000464155.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 332,
"cds_start": 218,
"cds_end": null,
"cds_length": 1000,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "XM_024450832.2",
"protein_id": "XP_024306600.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 386,
"cds_start": 218,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "XM_024450833.2",
"protein_id": "XP_024306601.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 366,
"cds_start": 218,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "XM_024450834.2",
"protein_id": "XP_024306602.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 361,
"cds_start": 218,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "n.218T>C",
"hgvs_p": null,
"transcript": "ENST00000580526.1",
"protein_id": "ENSP00000462832.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "n.218T>C",
"hgvs_p": null,
"transcript": "ENST00000585130.5",
"protein_id": "ENSP00000464120.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "n.288T>C",
"hgvs_p": null,
"transcript": "NR_144488.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"transcript": "XM_024450835.2",
"protein_id": "XP_024306603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.-50+955T>C",
"hgvs_p": null,
"transcript": "ENST00000581548.5",
"protein_id": "ENSP00000467079.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"dbsnp": "rs765197388",
"frequency_reference_population": 0.000024172825,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000253162,
"gnomad_genomes_af": 0.0000131693,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06636801362037659,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.782,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018404.3",
"gene_symbol": "ADAP2",
"hgnc_id": 16487,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}