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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: 15-78763839-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78763839&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78763839,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014272.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Glu1534Lys",
"transcript": "NM_014272.5",
"protein_id": "NP_055087.2",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4600,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Glu1534Lys",
"transcript": "ENST00000388820.5",
"protein_id": "ENSP00000373472.4",
"transcript_support_level": 1,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4600,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4573G>A",
"hgvs_p": "p.Glu1525Lys",
"transcript": "ENST00000972106.1",
"protein_id": "ENSP00000642165.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1677,
"cds_start": 4573,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Glu1534Lys",
"transcript": "ENST00000972107.1",
"protein_id": "ENSP00000642166.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4600,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4507G>A",
"hgvs_p": "p.Glu1503Lys",
"transcript": "ENST00000972108.1",
"protein_id": "ENSP00000642167.1",
"transcript_support_level": null,
"aa_start": 1503,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4507,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4414G>A",
"hgvs_p": "p.Glu1472Lys",
"transcript": "ENST00000917172.1",
"protein_id": "ENSP00000587231.1",
"transcript_support_level": null,
"aa_start": 1472,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4414,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4216G>A",
"hgvs_p": "p.Glu1406Lys",
"transcript": "ENST00000917171.1",
"protein_id": "ENSP00000587230.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1558,
"cds_start": 4216,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Glu1110Lys",
"transcript": "ENST00000917170.1",
"protein_id": "ENSP00000587229.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3328,
"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"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Glu1534Lys",
"transcript": "XM_047432122.1",
"protein_id": "XP_047288078.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4600,
"cds_end": null,
"cds_length": 5070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432122.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.3841G>A",
"hgvs_p": "p.Glu1281Lys",
"transcript": "XM_047432123.1",
"protein_id": "XP_047288079.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3841,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432123.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Glu952Lys",
"transcript": "XM_011521166.3",
"protein_id": "XP_011519468.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521166.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"hgvs_c": "n.*112G>A",
"hgvs_p": null,
"transcript": "ENST00000569934.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000569934.1"
}
],
"gene_symbol": "ADAMTS7",
"gene_hgnc_id": 223,
"dbsnp": "rs948628888",
"frequency_reference_population": 0.00001074179,
"hom_count_reference_population": 1,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000111862,
"gnomad_genomes_af": 0.00000656745,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4187127351760864,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.1191,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.456,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014272.5",
"gene_symbol": "ADAMTS7",
"hgnc_id": 223,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Glu1534Lys"
}
],
"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
}