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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: 2-96817076-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96817076&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96817076,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000305510.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "NM_017623.5",
"protein_id": "NP_060093.3",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 707,
"cds_start": 799,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000305510.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "ENST00000305510.4",
"protein_id": "ENSP00000305449.3",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 707,
"cds_start": 799,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_017623.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "NM_199078.3",
"protein_id": "NP_951060.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 659,
"cds_start": 799,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "ENST00000377060.7",
"protein_id": "ENSP00000366260.3",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 659,
"cds_start": 799,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "XM_047443913.1",
"protein_id": "XP_047299869.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 738,
"cds_start": 799,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 6509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "XM_011510957.4",
"protein_id": "XP_011509259.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 703,
"cds_start": 799,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "XM_017003800.3",
"protein_id": "XP_016859289.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 702,
"cds_start": 799,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "XM_047443914.1",
"protein_id": "XP_047299870.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 690,
"cds_start": 799,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "XM_047443915.1",
"protein_id": "XP_047299871.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 688,
"cds_start": 799,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu",
"transcript": "XM_047443917.1",
"protein_id": "XP_047299873.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 657,
"cds_start": 799,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNNM3-DT",
"gene_hgnc_id": 53592,
"hgvs_c": "n.50-3501G>A",
"hgvs_p": null,
"transcript": "ENST00000824521.1",
"protein_id": null,
"transcript_support_level": null,
"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": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNNM3",
"gene_hgnc_id": 104,
"dbsnp": "rs1015625758",
"frequency_reference_population": 0.000056932535,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000541023,
"gnomad_genomes_af": 0.0000794439,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.845,
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000305510.4",
"gene_symbol": "CNNM3",
"hgnc_id": 104,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Leu267Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000824521.1",
"gene_symbol": "CNNM3-DT",
"hgnc_id": 53592,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.50-3501G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}