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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: 8-40581181-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=40581181&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 40581181,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024645.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.658T>A",
"hgvs_p": "p.Ser220Thr",
"transcript": "NM_024645.3",
"protein_id": "NP_078921.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 229,
"cds_start": 658,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297737.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024645.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.658T>A",
"hgvs_p": "p.Ser220Thr",
"transcript": "ENST00000297737.11",
"protein_id": "ENSP00000297737.6",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 229,
"cds_start": 658,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024645.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297737.11"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.430T>A",
"hgvs_p": "p.Ser144Thr",
"transcript": "ENST00000315769.11",
"protein_id": "ENSP00000319785.7",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 153,
"cds_start": 430,
"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": "ENST00000315769.11"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.658T>A",
"hgvs_p": "p.Ser220Thr",
"transcript": "ENST00000958182.1",
"protein_id": "ENSP00000628241.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 229,
"cds_start": 658,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958182.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.430T>A",
"hgvs_p": "p.Ser144Thr",
"transcript": "NM_001135731.2",
"protein_id": "NP_001129203.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 153,
"cds_start": 430,
"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": "NM_001135731.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.430T>A",
"hgvs_p": "p.Ser144Thr",
"transcript": "ENST00000958183.1",
"protein_id": "ENSP00000628242.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 153,
"cds_start": 430,
"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": "ENST00000958183.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.340T>A",
"hgvs_p": "p.Ser114Thr",
"transcript": "ENST00000917688.1",
"protein_id": "ENSP00000587747.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 123,
"cds_start": 340,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917688.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"hgvs_c": "c.*23T>A",
"hgvs_p": null,
"transcript": "ENST00000519406.5",
"protein_id": "ENSP00000428423.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519406.5"
}
],
"gene_symbol": "ZMAT4",
"gene_hgnc_id": 25844,
"dbsnp": "rs1339923346",
"frequency_reference_population": 0.000019698999,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000019699,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11852443218231201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.2265,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.316,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024645.3",
"gene_symbol": "ZMAT4",
"hgnc_id": 25844,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.658T>A",
"hgvs_p": "p.Ser220Thr"
}
],
"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
}