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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: 6-89257779-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=89257779&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 89257779,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000402938.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"transcript": "NM_002043.5",
"protein_id": "NP_002034.3",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 465,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": "ENST00000402938.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"transcript": "ENST00000402938.4",
"protein_id": "ENSP00000386029.4",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 465,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": "NM_002043.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "XM_011535714.4",
"protein_id": "XP_011534016.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 366,
"cds_start": 992,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2363,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "XM_011535715.4",
"protein_id": "XP_011534017.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 366,
"cds_start": 992,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "XM_011535716.4",
"protein_id": "XP_011534018.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 366,
"cds_start": 992,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Met",
"transcript": "XM_011535717.4",
"protein_id": "XP_011534019.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 366,
"cds_start": 992,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 2437,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "n.1120C>T",
"hgvs_p": null,
"transcript": "ENST00000602432.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"hgvs_c": "c.1220-99C>T",
"hgvs_p": null,
"transcript": "XM_047418599.1",
"protein_id": "XP_047274555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRR2",
"gene_hgnc_id": 4091,
"dbsnp": "rs282129",
"frequency_reference_population": 0.2796132,
"hom_count_reference_population": 65810,
"allele_count_reference_population": 451152,
"gnomad_exomes_af": 0.27731,
"gnomad_genomes_af": 0.301749,
"gnomad_exomes_ac": 405262,
"gnomad_genomes_ac": 45890,
"gnomad_exomes_homalt": 58363,
"gnomad_genomes_homalt": 7447,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0008255839347839355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.0659,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.101,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000402938.4",
"gene_symbol": "GABRR2",
"hgnc_id": 4091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}