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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: 1-22647255-ACC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=22647255&ref=ACC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 22647255,
"ref": "ACC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_172369.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "NM_172369.5",
"protein_id": "NP_758957.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374640.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172369.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000374640.9",
"protein_id": "ENSP00000363771.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172369.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374640.9"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "NM_001114101.3",
"protein_id": "NP_001107573.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114101.3"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "NM_001347619.2",
"protein_id": "NP_001334548.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347619.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000374637.1",
"protein_id": "ENSP00000363768.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374637.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000374639.7",
"protein_id": "ENSP00000363770.3",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374639.7"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000695751.1",
"protein_id": "ENSP00000512144.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695751.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000867664.1",
"protein_id": "ENSP00000537723.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867664.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000867665.1",
"protein_id": "ENSP00000537724.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867665.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs",
"transcript": "ENST00000968848.1",
"protein_id": "ENSP00000638907.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 212,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968848.1"
},
{
"aa_ref": "TQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.297_298delCC",
"hgvs_p": "p.Gln100fs",
"transcript": "ENST00000695752.1",
"protein_id": "ENSP00000512145.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 137,
"cds_start": 297,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695752.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.-56_-55delCC",
"hgvs_p": null,
"transcript": "NM_001347620.2",
"protein_id": "NP_001334549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347620.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.-56_-55delCC",
"hgvs_p": null,
"transcript": "ENST00000695749.1",
"protein_id": "ENSP00000512142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695749.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.-56_-55delCC",
"hgvs_p": null,
"transcript": "ENST00000695753.1",
"protein_id": "ENSP00000512146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"hgvs_c": "c.*184_*185delCC",
"hgvs_p": null,
"transcript": "ENST00000695750.1",
"protein_id": "ENSP00000512143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": null,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695750.1"
}
],
"gene_symbol": "C1QC",
"gene_hgnc_id": 1245,
"dbsnp": "rs761681612",
"frequency_reference_population": 0.0000012430467,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.86319e-7,
"gnomad_genomes_af": 0.00000658319,
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.591,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_172369.5",
"gene_symbol": "C1QC",
"hgnc_id": 1245,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.212_213delCC",
"hgvs_p": "p.Pro71fs"
}
],
"clinvar_disease": "C1Q deficiency 3,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|C1Q deficiency 3",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}