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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: 21-44809073-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44809073&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44809073,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286416.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Ile66Val",
"transcript": "NM_006936.3",
"protein_id": "NP_008867.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 103,
"cds_start": 196,
"cds_end": null,
"cds_length": 312,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": "ENST00000332859.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006936.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Ile66Val",
"transcript": "ENST00000332859.11",
"protein_id": "ENSP00000330343.7",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 103,
"cds_start": 196,
"cds_end": null,
"cds_length": 312,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": "NM_006936.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332859.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Ile66Val",
"transcript": "ENST00000397893.3",
"protein_id": "ENSP00000380990.3",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 147,
"cds_start": 196,
"cds_end": null,
"cds_length": 444,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397893.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Ile104Val",
"transcript": "NM_001286416.2",
"protein_id": "NP_001273345.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 141,
"cds_start": 310,
"cds_end": null,
"cds_length": 426,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286416.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Ile104Val",
"transcript": "ENST00000411651.6",
"protein_id": "ENSP00000409666.2",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 141,
"cds_start": 310,
"cds_end": null,
"cds_length": 426,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411651.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Ile66Val",
"transcript": "ENST00000397898.7",
"protein_id": "ENSP00000380995.3",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 135,
"cds_start": 196,
"cds_end": null,
"cds_length": 408,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397898.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "ENST00000889599.1",
"protein_id": "ENSP00000559658.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 117,
"cds_start": 238,
"cds_end": null,
"cds_length": 354,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889599.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Ile65Val",
"transcript": "ENST00000889598.1",
"protein_id": "ENSP00000559657.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 102,
"cds_start": 193,
"cds_end": null,
"cds_length": 309,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889598.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Ile66Val",
"transcript": "ENST00000932423.1",
"protein_id": "ENSP00000602482.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 101,
"cds_start": 196,
"cds_end": null,
"cds_length": 306,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932423.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Ile60Val",
"transcript": "ENST00000932424.1",
"protein_id": "ENSP00000602483.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 97,
"cds_start": 178,
"cds_end": null,
"cds_length": 294,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932424.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Ile23Val",
"transcript": "ENST00000889596.1",
"protein_id": "ENSP00000559655.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 60,
"cds_start": 67,
"cds_end": null,
"cds_length": 183,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "c.151-2033A>G",
"hgvs_p": null,
"transcript": "ENST00000889597.1",
"protein_id": "ENSP00000559656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"hgvs_c": "n.286A>G",
"hgvs_p": null,
"transcript": "ENST00000479153.1",
"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": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479153.1"
}
],
"gene_symbol": "SUMO3",
"gene_hgnc_id": 11124,
"dbsnp": "rs761729322",
"frequency_reference_population": 0.000039653085,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.000038991,
"gnomad_genomes_af": 0.0000460151,
"gnomad_exomes_ac": 57,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3052564263343811,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.2404,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.677,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286416.2",
"gene_symbol": "SUMO3",
"hgnc_id": 11124,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Ile104Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}