← Back to variant description
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: 1-7984930-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7984930&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 7984930,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000338639.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "NM_007262.5",
"protein_id": "NP_009193.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": "ENST00000338639.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "ENST00000338639.10",
"protein_id": "ENSP00000340278.5",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": "NM_007262.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "ENST00000493678.5",
"protein_id": "ENSP00000418770.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "NM_001123377.2",
"protein_id": "NP_001116849.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "ENST00000377488.5",
"protein_id": "ENSP00000366708.1",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "ENST00000377491.5",
"protein_id": "ENSP00000366711.1",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "ENST00000493373.5",
"protein_id": "ENSP00000465404.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 188,
"cds_start": 446,
"cds_end": null,
"cds_length": 568,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Asp129Ala",
"transcript": "ENST00000377493.9",
"protein_id": "ENSP00000466242.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 169,
"cds_start": 386,
"cds_end": null,
"cds_length": 510,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.359A>C",
"hgvs_p": "p.Asp120Ala",
"transcript": "ENST00000469225.1",
"protein_id": "ENSP00000466756.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 160,
"cds_start": 359,
"cds_end": null,
"cds_length": 483,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "XM_005263424.4",
"protein_id": "XP_005263481.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 189,
"cds_start": 446,
"cds_end": null,
"cds_length": 570,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARK7",
"gene_hgnc_id": 16369,
"dbsnp": "rs74315352",
"frequency_reference_population": 0.000115231494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 186,
"gnomad_exomes_af": 0.0000670369,
"gnomad_genomes_af": 0.000577959,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 88,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21485087275505066,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.93,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7599,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Moderate,BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Moderate",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000338639.10",
"gene_symbol": "PARK7",
"hgnc_id": 16369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala"
}
],
"clinvar_disease": "Autosomal recessive early-onset Parkinson disease 7",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Autosomal recessive early-onset Parkinson disease 7",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}