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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: 15-26883177-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=26883177&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 26883177,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000810.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "NM_000810.4",
"protein_id": "NP_000801.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335625.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000810.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000335625.10",
"protein_id": "ENSP00000335592.5",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000810.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335625.10"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.200+56060G>T",
"hgvs_p": null,
"transcript": "ENST00000541819.6",
"protein_id": "ENSP00000442408.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541819.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "NM_001165037.2",
"protein_id": "NP_001158509.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165037.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000355395.9",
"protein_id": "ENSP00000347557.5",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355395.9"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000400081.7",
"protein_id": "ENSP00000382953.3",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400081.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000879566.1",
"protein_id": "ENSP00000549625.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879566.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000951856.1",
"protein_id": "ENSP00000621915.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951856.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Gln42Lys",
"transcript": "ENST00000555182.5",
"protein_id": "ENSP00000450653.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 165,
"cds_start": 124,
"cds_end": null,
"cds_length": 499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555182.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000554599.5",
"protein_id": "ENSP00000450717.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 164,
"cds_start": 220,
"cds_end": null,
"cds_length": 497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554599.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000554596.5",
"protein_id": "ENSP00000450806.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 147,
"cds_start": 220,
"cds_end": null,
"cds_length": 446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554596.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "ENST00000554038.5",
"protein_id": "ENSP00000451527.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 85,
"cds_start": 220,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554038.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Gln42Lys",
"transcript": "ENST00000554083.1",
"protein_id": "ENSP00000450529.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 84,
"cds_start": 124,
"cds_end": null,
"cds_length": 257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554083.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "XM_005268258.3",
"protein_id": "XP_005268315.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268258.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "XM_006720459.3",
"protein_id": "XP_006720522.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 462,
"cds_start": 220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720459.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "XM_017022055.2",
"protein_id": "XP_016877544.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 306,
"cds_start": 220,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022055.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "XM_017022056.2",
"protein_id": "XP_016877545.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 306,
"cds_start": 220,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022056.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "XM_047432338.1",
"protein_id": "XP_047288294.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 306,
"cds_start": 220,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432338.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys",
"transcript": "XM_047432339.1",
"protein_id": "XP_047288295.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 306,
"cds_start": 220,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"hgvs_c": "n.521+2210C>A",
"hgvs_p": null,
"transcript": "ENST00000557449.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000557449.5"
}
],
"gene_symbol": "GABRA5",
"gene_hgnc_id": 4079,
"dbsnp": "rs371972383",
"frequency_reference_population": 0.00001549225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.00000478943,
"gnomad_genomes_af": 0.000118298,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1280008852481842,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.868,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000810.4",
"gene_symbol": "GABRA5",
"hgnc_id": 4079,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Gln74Lys"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000541819.6",
"gene_symbol": "GABRB3",
"hgnc_id": 4083,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.200+56060G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}