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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: 22-39521510-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39521510&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39521510,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000674920.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "NM_182810.3",
"protein_id": "NP_877962.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": "ENST00000674920.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000674920.3",
"protein_id": "ENSP00000501863.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": "NM_182810.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000337304.2",
"protein_id": "ENSP00000336790.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000396680.3",
"protein_id": "ENSP00000379912.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "NM_001675.4",
"protein_id": "NP_001666.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000404241.7",
"protein_id": "ENSP00000384587.2",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000674568.2",
"protein_id": "ENSP00000501783.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000674835.2",
"protein_id": "ENSP00000502610.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000676346.2",
"protein_id": "ENSP00000502400.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000679776.1",
"protein_id": "ENSP00000505360.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 351,
"cds_start": 65,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro",
"transcript": "ENST00000680748.1",
"protein_id": "ENSP00000506141.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 97,
"cds_start": 65,
"cds_end": null,
"cds_length": 294,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 763,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.30+35A>C",
"hgvs_p": null,
"transcript": "ENST00000675582.2",
"protein_id": "ENSP00000502056.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": -4,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1249,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"hgvs_c": "c.-26-263A>C",
"hgvs_p": null,
"transcript": "ENST00000680446.1",
"protein_id": "ENSP00000506657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATF4",
"gene_hgnc_id": 786,
"dbsnp": "rs4894",
"frequency_reference_population": 0.30593202,
"hom_count_reference_population": 76463,
"allele_count_reference_population": 490275,
"gnomad_exomes_af": 0.306527,
"gnomad_genomes_af": 0.300255,
"gnomad_exomes_ac": 444611,
"gnomad_genomes_ac": 45664,
"gnomad_exomes_homalt": 69495,
"gnomad_genomes_homalt": 6968,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0012947916984558105,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.081,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "ENST00000674920.3",
"gene_symbol": "ATF4",
"hgnc_id": 786,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.65A>C",
"hgvs_p": "p.Gln22Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}