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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: 15-78759485-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78759485&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78759485,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014272.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4997G>A",
"hgvs_p": "p.Arg1666His",
"transcript": "NM_014272.5",
"protein_id": "NP_055087.2",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388820.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014272.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4997G>A",
"hgvs_p": "p.Arg1666His",
"transcript": "ENST00000388820.5",
"protein_id": "ENSP00000373472.4",
"transcript_support_level": 1,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014272.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388820.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4970G>A",
"hgvs_p": "p.Arg1657His",
"transcript": "ENST00000972106.1",
"protein_id": "ENSP00000642165.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1677,
"cds_start": 4970,
"cds_end": null,
"cds_length": 5034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972106.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4937G>A",
"hgvs_p": "p.Arg1646His",
"transcript": "ENST00000972107.1",
"protein_id": "ENSP00000642166.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4937,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972107.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4904G>A",
"hgvs_p": "p.Arg1635His",
"transcript": "ENST00000972108.1",
"protein_id": "ENSP00000642167.1",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4904,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972108.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4811G>A",
"hgvs_p": "p.Arg1604His",
"transcript": "ENST00000917172.1",
"protein_id": "ENSP00000587231.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4811,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917172.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4613G>A",
"hgvs_p": "p.Arg1538His",
"transcript": "ENST00000917171.1",
"protein_id": "ENSP00000587230.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1558,
"cds_start": 4613,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917171.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.3725G>A",
"hgvs_p": "p.Arg1242His",
"transcript": "ENST00000917170.1",
"protein_id": "ENSP00000587229.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3725,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917170.1"
}
],
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"dbsnp": "rs375146471",
"frequency_reference_population": 0.00007325576,
"hom_count_reference_population": 0,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000768224,
"gnomad_genomes_af": 0.0000394083,
"gnomad_exomes_ac": 111,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.032972097396850586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1014,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.301,
"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_014272.5",
"gene_symbol": "ADAMTS7",
"hgnc_id": 223,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4997G>A",
"hgvs_p": "p.Arg1666His"
}
],
"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
}