← 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: 19-41998984-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41998984&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRIK5",
"hgnc_id": 4583,
"hgvs_c": "c.2830G>T",
"hgvs_p": "p.Ala944Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_002088.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.0703,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09528043866157532,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 980,
"aa_ref": "A",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 3846,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2830,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_002088.5",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2830G>T",
"hgvs_p": "p.Ala944Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000593562.6",
"protein_coding": true,
"protein_id": "NP_002079.3",
"strand": false,
"transcript": "NM_002088.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 980,
"aa_ref": "A",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 3846,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2830,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000593562.6",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2830G>T",
"hgvs_p": "p.Ala944Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002088.5",
"protein_coding": true,
"protein_id": "ENSP00000470251.1",
"strand": false,
"transcript": "ENST00000593562.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 980,
"aa_ref": "A",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2830,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000262895.7",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2830G>T",
"hgvs_p": "p.Ala944Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262895.2",
"strand": false,
"transcript": "ENST00000262895.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000454993.6",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "n.1707G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000454993.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 993,
"aa_ref": "A",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000933564.1",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2869G>T",
"hgvs_p": "p.Ala957Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603623.1",
"strand": false,
"transcript": "ENST00000933564.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 985,
"aa_ref": "A",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000933563.1",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2845G>T",
"hgvs_p": "p.Ala949Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603622.1",
"strand": false,
"transcript": "ENST00000933563.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "A",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": 3865,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000933560.1",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2815G>T",
"hgvs_p": "p.Ala939Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603619.1",
"strand": false,
"transcript": "ENST00000933560.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 942,
"aa_ref": "A",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2716,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000933561.1",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2716G>T",
"hgvs_p": "p.Ala906Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603620.1",
"strand": false,
"transcript": "ENST00000933561.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 2166,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000933562.1",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Ala685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603621.1",
"strand": false,
"transcript": "ENST00000933562.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 981,
"aa_ref": "A",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 3837,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2833,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011526862.3",
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"hgvs_c": "c.2833G>T",
"hgvs_p": "p.Ala945Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525164.1",
"strand": false,
"transcript": "XM_011526862.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1432915592",
"effect": "missense_variant",
"frequency_reference_population": 0.000006657313,
"gene_hgnc_id": 4583,
"gene_symbol": "GRIK5",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000379786,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000269429,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.845,
"pos": 41998984,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.04,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002088.5"
}
]
}