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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: 9-120953758-GG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120953758&ref=GG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120953758,
"ref": "GG",
"alt": "C",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001317163.2",
"consequences": [
{
"aa_ref": "AL",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.4872_4873delCCinsG",
"hgvs_p": "p.Leu1625fs",
"transcript": "NM_001735.3",
"protein_id": "NP_001726.2",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4872,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": "ENST00000223642.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001735.3"
},
{
"aa_ref": "AL",
"aa_alt": "A?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.4872_4873delCCinsG",
"hgvs_p": "p.Leu1625fs",
"transcript": "ENST00000223642.3",
"protein_id": "ENSP00000223642.1",
"transcript_support_level": 1,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4872,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": "NM_001735.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223642.3"
},
{
"aa_ref": "AL",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.4890_4891delCCinsG",
"hgvs_p": "p.Leu1631fs",
"transcript": "NM_001317163.2",
"protein_id": "NP_001304092.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1682,
"cds_start": 4890,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 4920,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317163.2"
},
{
"aa_ref": "AL",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.4890_4891delCCinsG",
"hgvs_p": "p.Leu1631fs",
"transcript": "ENST00000696281.1",
"protein_id": "ENSP00000512521.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1682,
"cds_start": 4890,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 5250,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696281.1"
},
{
"aa_ref": "AL",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.4788_4789delCCinsG",
"hgvs_p": "p.Leu1597fs",
"transcript": "ENST00000867873.1",
"protein_id": "ENSP00000537932.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1648,
"cds_start": 4788,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 4848,
"cdna_end": null,
"cdna_length": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867873.1"
},
{
"aa_ref": "AL",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.4782_4783delCCinsG",
"hgvs_p": "p.Leu1595fs",
"transcript": "ENST00000867874.1",
"protein_id": "ENSP00000537933.1",
"transcript_support_level": null,
"aa_start": 1594,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4782,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.5322_5323delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000480188.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6732,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480188.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*5059_*5060delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000696279.1",
"protein_id": "ENSP00000512520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.4961_4962delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000696280.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.3750_3751delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000697921.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697921.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*4862_*4863delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000697922.1",
"protein_id": "ENSP00000513478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.8733_8734delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000697923.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9114,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*5059_*5060delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000696279.1",
"protein_id": "ENSP00000512520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*4862_*4863delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000697922.1",
"protein_id": "ENSP00000513478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697922.1"
}
],
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"dbsnp": "rs387906554",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.86,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001317163.2",
"gene_symbol": "C5",
"hgnc_id": 1331,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4890_4891delCCinsG",
"hgvs_p": "p.Leu1631fs"
}
],
"clinvar_disease": "Complement component 5 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Complement component 5 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}