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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: 10-43616547-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43616547&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43616547,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145312.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile",
"transcript": "NM_145312.4",
"protein_id": "NP_660355.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 504,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361807.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145312.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile",
"transcript": "ENST00000361807.8",
"protein_id": "ENSP00000354694.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 504,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145312.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361807.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile",
"transcript": "ENST00000374435.3",
"protein_id": "ENSP00000363558.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 504,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374435.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile",
"transcript": "NM_001318140.2",
"protein_id": "NP_001305069.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 504,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318140.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile",
"transcript": "NM_001318141.2",
"protein_id": "NP_001305070.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 504,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318141.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile",
"transcript": "ENST00000896014.1",
"protein_id": "ENSP00000566073.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 504,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896014.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "ENST00000938411.1",
"protein_id": "ENSP00000608470.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 409,
"cds_start": 408,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938411.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "ENST00000938412.1",
"protein_id": "ENSP00000608471.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 409,
"cds_start": 408,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938412.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Met136Ile",
"transcript": "ENST00000954239.1",
"protein_id": "ENSP00000624298.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 409,
"cds_start": 408,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954239.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.231G>C",
"hgvs_p": "p.Met77Ile",
"transcript": "NM_001318142.2",
"protein_id": "NP_001305071.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 350,
"cds_start": 231,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318142.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.231G>C",
"hgvs_p": "p.Met77Ile",
"transcript": "NM_001318143.2",
"protein_id": "NP_001305072.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 350,
"cds_start": 231,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318143.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.231G>C",
"hgvs_p": "p.Met77Ile",
"transcript": "XM_011539498.3",
"protein_id": "XP_011537800.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 350,
"cds_start": 231,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539498.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"hgvs_c": "c.*152G>C",
"hgvs_p": null,
"transcript": "ENST00000430885.5",
"protein_id": "ENSP00000393570.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430885.5"
}
],
"gene_symbol": "ZNF485",
"gene_hgnc_id": 23440,
"dbsnp": "rs755675631",
"frequency_reference_population": 0.0000027362253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05482673645019531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.301,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.018,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145312.4",
"gene_symbol": "ZNF485",
"hgnc_id": 23440,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Met168Ile"
}
],
"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
}