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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: 11-126424726-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126424726&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126424726,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032531.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe",
"transcript": "NM_032531.4",
"protein_id": "NP_115920.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 778,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "ENST00000525144.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe",
"transcript": "ENST00000525144.7",
"protein_id": "ENSP00000435466.2",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 778,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "NM_032531.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2155G>T",
"hgvs_p": "p.Val719Phe",
"transcript": "ENST00000529097.6",
"protein_id": "ENSP00000434081.2",
"transcript_support_level": 1,
"aa_start": 719,
"aa_end": null,
"aa_length": 766,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Phe",
"transcript": "NM_001441252.1",
"protein_id": "NP_001428181.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 814,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2560,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Val756Phe",
"transcript": "NM_001441253.1",
"protein_id": "NP_001428182.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 803,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2230G>T",
"hgvs_p": "p.Val744Phe",
"transcript": "NM_001441251.1",
"protein_id": "NP_001428180.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 791,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2230G>T",
"hgvs_p": "p.Val744Phe",
"transcript": "NM_001441254.1",
"protein_id": "NP_001428183.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 791,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2224G>T",
"hgvs_p": "p.Val742Phe",
"transcript": "NM_001441255.1",
"protein_id": "NP_001428184.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 789,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2702,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2194G>T",
"hgvs_p": "p.Val732Phe",
"transcript": "NM_001441256.1",
"protein_id": "NP_001428185.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 779,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe",
"transcript": "NM_001441257.1",
"protein_id": "NP_001428186.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 778,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe",
"transcript": "NM_001441258.1",
"protein_id": "NP_001428187.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 778,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2155G>T",
"hgvs_p": "p.Val719Phe",
"transcript": "NM_001301097.2",
"protein_id": "NP_001288026.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 766,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Val717Phe",
"transcript": "NM_001441259.1",
"protein_id": "NP_001428188.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 764,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2113G>T",
"hgvs_p": "p.Val705Phe",
"transcript": "NM_001441260.1",
"protein_id": "NP_001428189.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 752,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Val683Phe",
"transcript": "NM_001441261.1",
"protein_id": "NP_001428190.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 730,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.2005G>T",
"hgvs_p": "p.Val669Phe",
"transcript": "NM_001441262.1",
"protein_id": "NP_001428191.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 716,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.1624G>T",
"hgvs_p": "p.Val542Phe",
"transcript": "XM_047427715.1",
"protein_id": "XP_047283671.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 589,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 5598,
"cdna_end": null,
"cdna_length": 6966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "n.629+15315C>A",
"hgvs_p": null,
"transcript": "ENST00000524834.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"dbsnp": "rs119462980",
"frequency_reference_population": 0.00000557645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547307,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31989285349845886,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.0729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.792,
"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": -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_032531.4",
"gene_symbol": "KIRREL3",
"hgnc_id": 23204,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Val731Phe"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000524834.5",
"gene_symbol": "ST3GAL4",
"hgnc_id": 10864,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.629+15315C>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 4,Intellectual disability,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Intellectual disability, autosomal dominant 4|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}