← 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: 9-101408158-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101408158&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 101408158,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003452.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.390C>G",
"hgvs_p": "p.Phe130Leu",
"transcript": "NM_003452.4",
"protein_id": "NP_003443.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 626,
"cds_start": 390,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339664.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003452.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.390C>G",
"hgvs_p": "p.Phe130Leu",
"transcript": "ENST00000339664.7",
"protein_id": "ENSP00000342019.2",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 626,
"cds_start": 390,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003452.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339664.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.348C>G",
"hgvs_p": "p.Phe116Leu",
"transcript": "ENST00000374861.7",
"protein_id": "ENSP00000363995.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 612,
"cds_start": 348,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374861.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "ENST00000259395.4",
"protein_id": "ENSP00000259395.4",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 584,
"cds_start": 264,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259395.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.348C>G",
"hgvs_p": "p.Phe116Leu",
"transcript": "NM_001278231.2",
"protein_id": "NP_001265160.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 612,
"cds_start": 348,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278231.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.345C>G",
"hgvs_p": "p.Phe115Leu",
"transcript": "NM_001278232.2",
"protein_id": "NP_001265161.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 611,
"cds_start": 345,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278232.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "NM_197977.3",
"protein_id": "NP_932094.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 584,
"cds_start": 264,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197977.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "XM_006717280.5",
"protein_id": "XP_006717343.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 584,
"cds_start": 264,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717280.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "XM_011518998.4",
"protein_id": "XP_011517300.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 584,
"cds_start": 264,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518998.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.237C>G",
"hgvs_p": "p.Phe79Leu",
"transcript": "XM_011518999.4",
"protein_id": "XP_011517301.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 575,
"cds_start": 237,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518999.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.*211C>G",
"hgvs_p": null,
"transcript": "NM_001278240.2",
"protein_id": "NP_001265169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278240.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "c.*211C>G",
"hgvs_p": null,
"transcript": "ENST00000615466.1",
"protein_id": "ENSP00000483461.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"hgvs_c": "n.756C>G",
"hgvs_p": null,
"transcript": "NR_103480.2",
"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": "NR_103480.2"
}
],
"gene_symbol": "ZNF189",
"gene_hgnc_id": 12980,
"dbsnp": "rs1830782098",
"frequency_reference_population": 0.000006574449,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657445,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11272409558296204,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.5705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.503,
"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": 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_003452.4",
"gene_symbol": "ZNF189",
"hgnc_id": 12980,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.390C>G",
"hgvs_p": "p.Phe130Leu"
}
],
"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
}