← Back to variant description
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: 5-39331713-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=39331713&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 39331713,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_001737.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "NM_001737.5",
"protein_id": "NP_001728.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 559,
"cds_start": 577,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263408.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001737.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000263408.5",
"protein_id": "ENSP00000263408.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 559,
"cds_start": 577,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001737.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263408.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.661delT",
"hgvs_p": "p.Tyr221fs",
"transcript": "ENST00000884641.1",
"protein_id": "ENSP00000554700.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 587,
"cds_start": 661,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884641.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884639.1",
"protein_id": "ENSP00000554698.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 559,
"cds_start": 577,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884639.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884642.1",
"protein_id": "ENSP00000554701.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 556,
"cds_start": 577,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884642.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.505delT",
"hgvs_p": "p.Tyr169fs",
"transcript": "ENST00000509186.6",
"protein_id": "ENSP00000512235.1",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 535,
"cds_start": 505,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509186.6"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000695880.1",
"protein_id": "ENSP00000512236.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 516,
"cds_start": 577,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695880.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884640.1",
"protein_id": "ENSP00000554699.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 484,
"cds_start": 577,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884640.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884643.1",
"protein_id": "ENSP00000554702.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 474,
"cds_start": 577,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884643.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884644.1",
"protein_id": "ENSP00000554703.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 442,
"cds_start": 577,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884644.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.178delT",
"hgvs_p": "p.Tyr60fs",
"transcript": "ENST00000884646.1",
"protein_id": "ENSP00000554705.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 426,
"cds_start": 178,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884646.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884647.1",
"protein_id": "ENSP00000554706.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 292,
"cds_start": 577,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884647.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs",
"transcript": "ENST00000884645.1",
"protein_id": "ENSP00000554704.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 260,
"cds_start": 577,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "n.577delT",
"hgvs_p": null,
"transcript": "ENST00000695881.1",
"protein_id": "ENSP00000512237.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"hgvs_c": "n.608delT",
"hgvs_p": null,
"transcript": "ENST00000695883.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289699",
"gene_hgnc_id": null,
"hgvs_c": "n.*59delT",
"hgvs_p": null,
"transcript": "ENST00000696106.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696106.1"
}
],
"gene_symbol": "C9",
"gene_hgnc_id": 1358,
"dbsnp": "rs778518669",
"frequency_reference_population": 0.000006196693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547364,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"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": 4.822,
"phylop100way_prediction": "Uncertain_significance",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001737.5",
"gene_symbol": "C9",
"hgnc_id": 1358,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.577delT",
"hgvs_p": "p.Tyr193fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000696106.1",
"gene_symbol": "ENSG00000289699",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*59delT",
"hgvs_p": null
}
],
"clinvar_disease": "Complement component 9 deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Complement component 9 deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}