← 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: 9-135095885-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135095885&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135095885,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001282611.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.322A>T",
"hgvs_p": "p.Ile108Leu",
"transcript": "NM_001282611.2",
"protein_id": "NP_001269540.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 485,
"cds_start": 322,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371793.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282611.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.322A>T",
"hgvs_p": "p.Ile108Leu",
"transcript": "ENST00000371793.8",
"protein_id": "ENSP00000360858.3",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 485,
"cds_start": 322,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282611.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371793.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Ile90Leu",
"transcript": "ENST00000252854.8",
"protein_id": "ENSP00000252854.4",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 467,
"cds_start": 268,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252854.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Ile90Leu",
"transcript": "ENST00000277415.15",
"protein_id": "ENSP00000277415.11",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 135,
"cds_start": 268,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277415.15"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.241A>T",
"hgvs_p": "p.Ile81Leu",
"transcript": "NM_001282612.1",
"protein_id": "NP_001269541.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 458,
"cds_start": 241,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282612.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.241A>T",
"hgvs_p": "p.Ile81Leu",
"transcript": "ENST00000371796.7",
"protein_id": "ENSP00000360861.3",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 458,
"cds_start": 241,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371796.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.238A>T",
"hgvs_p": "p.Ile80Leu",
"transcript": "NM_014279.7",
"protein_id": "NP_055094.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 457,
"cds_start": 238,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014279.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.13A>T",
"hgvs_p": "p.Ile5Leu",
"transcript": "ENST00000539877.5",
"protein_id": "ENSP00000443806.1",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 207,
"cds_start": 13,
"cds_end": null,
"cds_length": 625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539877.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.289A>T",
"hgvs_p": "p.Ile97Leu",
"transcript": "ENST00000339720.10",
"protein_id": "ENSP00000340318.6",
"transcript_support_level": 4,
"aa_start": 97,
"aa_end": null,
"aa_length": 162,
"cds_start": 289,
"cds_end": null,
"cds_length": 490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339720.10"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.322A>T",
"hgvs_p": "p.Ile108Leu",
"transcript": "ENST00000392991.8",
"protein_id": "ENSP00000376717.4",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 153,
"cds_start": 322,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392991.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.73A>T",
"hgvs_p": "p.Ile25Leu",
"transcript": "ENST00000539529.5",
"protein_id": "ENSP00000444296.1",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 128,
"cds_start": 73,
"cds_end": null,
"cds_length": 388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539529.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.238A>T",
"hgvs_p": "p.Ile80Leu",
"transcript": "NM_006334.6",
"protein_id": "NP_006325.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 125,
"cds_start": 238,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006334.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.300+5541A>T",
"hgvs_p": null,
"transcript": "ENST00000970973.1",
"protein_id": "ENSP00000641032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970973.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"hgvs_c": "c.-102A>T",
"hgvs_p": null,
"transcript": "ENST00000545657.1",
"protein_id": "ENSP00000437906.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545657.1"
}
],
"gene_symbol": "OLFM1",
"gene_hgnc_id": 17187,
"dbsnp": "rs1368600876",
"frequency_reference_population": 0.000007528554,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752855,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22900623083114624,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.4425,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.077,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282611.2",
"gene_symbol": "OLFM1",
"hgnc_id": 17187,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.322A>T",
"hgvs_p": "p.Ile108Leu"
}
],
"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
}