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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: 15-78762415-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78762415&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAMTS7",
"hgnc_id": 223,
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Val1631Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_014272.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 66,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0722,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.013550400733947754,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "V",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 5135,
"cds_end": null,
"cds_length": 5061,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_014272.5",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Val1631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000388820.5",
"protein_coding": true,
"protein_id": "NP_055087.2",
"strand": false,
"transcript": "NM_014272.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1686,
"aa_ref": "V",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 5135,
"cds_end": null,
"cds_length": 5061,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000388820.5",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Val1631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014272.5",
"protein_coding": true,
"protein_id": "ENSP00000373472.4",
"strand": false,
"transcript": "ENST00000388820.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1677,
"aa_ref": "V",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 5147,
"cds_end": null,
"cds_length": 5034,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000972106.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Val1622Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642165.1",
"strand": false,
"transcript": "ENST00000972106.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1666,
"aa_ref": "V",
"aa_start": 1611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5489,
"cdna_start": 5104,
"cds_end": null,
"cds_length": 5001,
"cds_start": 4831,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000972107.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4831G>A",
"hgvs_p": "p.Val1611Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642166.1",
"strand": false,
"transcript": "ENST00000972107.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1655,
"aa_ref": "V",
"aa_start": 1600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 5011,
"cds_end": null,
"cds_length": 4968,
"cds_start": 4798,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000972108.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4798G>A",
"hgvs_p": "p.Val1600Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642167.1",
"strand": false,
"transcript": "ENST00000972108.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "V",
"aa_start": 1569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5250,
"cdna_start": 4865,
"cds_end": null,
"cds_length": 4875,
"cds_start": 4705,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000917172.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4705G>A",
"hgvs_p": "p.Val1569Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587231.1",
"strand": false,
"transcript": "ENST00000917172.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1558,
"aa_ref": "V",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5133,
"cdna_start": 4751,
"cds_end": null,
"cds_length": 4677,
"cds_start": 4507,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000917171.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4507G>A",
"hgvs_p": "p.Val1503Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587230.1",
"strand": false,
"transcript": "ENST00000917171.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "V",
"aa_start": 1207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3619,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917170.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.3619G>A",
"hgvs_p": "p.Val1207Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587229.1",
"strand": false,
"transcript": "ENST00000917170.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1689,
"aa_ref": "V",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5318,
"cdna_start": 5135,
"cds_end": null,
"cds_length": 5070,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047432122.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Val1631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288078.1",
"strand": false,
"transcript": "XM_047432122.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "V",
"aa_start": 1378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 4634,
"cds_end": null,
"cds_length": 4311,
"cds_start": 4132,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047432123.1",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.4132G>A",
"hgvs_p": "p.Val1378Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288079.1",
"strand": false,
"transcript": "XM_047432123.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "V",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 3428,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011521166.3",
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"hgvs_c": "c.3145G>A",
"hgvs_p": "p.Val1049Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519468.1",
"strand": false,
"transcript": "XM_011521166.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs150570920",
"effect": "missense_variant",
"frequency_reference_population": 0.000044331362,
"gene_hgnc_id": 223,
"gene_symbol": "ADAMTS7",
"gnomad_exomes_ac": 27,
"gnomad_exomes_af": 0.0000202029,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 39,
"gnomad_genomes_af": 0.000255996,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.124,
"pos": 78762415,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.029,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_014272.5"
}
]
}