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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: 12-21470245-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21470245&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21470245,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000444129.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "NM_002907.4",
"protein_id": "NP_002898.2",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": "ENST00000444129.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "ENST00000444129.7",
"protein_id": "ENSP00000416739.2",
"transcript_support_level": 2,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": "NM_002907.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "ENST00000421138.6",
"protein_id": "ENSP00000395449.2",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD1",
"gene_hgnc_id": 26162,
"hgvs_c": "c.*1491T>C",
"hgvs_p": null,
"transcript": "NM_024854.5",
"protein_id": "NP_079130.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000240651.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD1",
"gene_hgnc_id": 26162,
"hgvs_c": "c.*1491T>C",
"hgvs_p": null,
"transcript": "ENST00000240651.14",
"protein_id": "ENSP00000240651.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_024854.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "NM_032941.3",
"protein_id": "NP_116559.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "XM_005253461.4",
"protein_id": "XP_005253518.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "XM_005253462.6",
"protein_id": "XP_005253519.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "XM_005253463.5",
"protein_id": "XP_005253520.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "XM_005253464.5",
"protein_id": "XP_005253521.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "XM_047429299.1",
"protein_id": "XP_047285255.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln",
"transcript": "XM_047429300.1",
"protein_id": "XP_047285256.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD1",
"gene_hgnc_id": 26162,
"hgvs_c": "c.*1491T>C",
"hgvs_p": null,
"transcript": "NM_001350912.2",
"protein_id": "NP_001337841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": -4,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD1",
"gene_hgnc_id": 26162,
"hgvs_c": "c.*1491T>C",
"hgvs_p": null,
"transcript": "ENST00000538582.5",
"protein_id": "ENSP00000438505.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": -4,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD1",
"gene_hgnc_id": 26162,
"hgvs_c": "c.*1491T>C",
"hgvs_p": null,
"transcript": "NM_001350913.2",
"protein_id": "NP_001337842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD1",
"gene_hgnc_id": 26162,
"hgvs_c": "c.*1491T>C",
"hgvs_p": null,
"transcript": "XM_017019976.3",
"protein_id": "XP_016875465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"dbsnp": "rs17849408",
"frequency_reference_population": 0.09678796,
"hom_count_reference_population": 8730,
"allele_count_reference_population": 155841,
"gnomad_exomes_af": 0.0953288,
"gnomad_genomes_af": 0.110855,
"gnomad_exomes_ac": 139066,
"gnomad_genomes_ac": 16775,
"gnomad_exomes_homalt": 7679,
"gnomad_genomes_homalt": 1051,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.379,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000444129.7",
"gene_symbol": "RECQL",
"hgnc_id": 9948,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1899A>G",
"hgvs_p": "p.Gln633Gln"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000240651.14",
"gene_symbol": "PYROXD1",
"hgnc_id": 26162,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1491T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}