← 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: 19-19629977-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19629977&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GMIP",
"hgnc_id": 24852,
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Glu967Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_016573.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.0738,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1039673388004303,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 970,
"aa_ref": "E",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_016573.4",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Glu967Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000203556.9",
"protein_coding": true,
"protein_id": "NP_057657.2",
"strand": false,
"transcript": "NM_016573.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 970,
"aa_ref": "E",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000203556.9",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Glu967Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016573.4",
"protein_coding": true,
"protein_id": "ENSP00000203556.3",
"strand": false,
"transcript": "ENST00000203556.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 944,
"aa_ref": "E",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 2853,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000587238.5",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2821G>A",
"hgvs_p": "p.Glu941Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467054.1",
"strand": false,
"transcript": "ENST00000587238.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 962,
"aa_ref": "E",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": 2952,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2875,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940889.1",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2875G>A",
"hgvs_p": "p.Glu959Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610948.1",
"strand": false,
"transcript": "ENST00000940889.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 961,
"aa_ref": "E",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2872,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000916819.1",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2872G>A",
"hgvs_p": "p.Glu958Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586878.1",
"strand": false,
"transcript": "ENST00000916819.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 959,
"aa_ref": "E",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 2977,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2866,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905972.1",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Glu956Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576031.1",
"strand": false,
"transcript": "ENST00000905972.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 944,
"aa_ref": "E",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001288999.2",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2821G>A",
"hgvs_p": "p.Glu941Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275928.1",
"strand": false,
"transcript": "NM_001288999.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 941,
"aa_ref": "E",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 2940,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2812,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001288998.2",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Glu938Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275927.1",
"strand": false,
"transcript": "NM_001288998.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 941,
"aa_ref": "E",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3442,
"cdna_start": 2938,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2812,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905971.1",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Glu938Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576030.1",
"strand": false,
"transcript": "ENST00000905971.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 967,
"aa_ref": "E",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2890,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005259927.3",
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"hgvs_c": "c.2890G>A",
"hgvs_p": "p.Glu964Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259984.1",
"strand": false,
"transcript": "XM_005259927.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs151053786",
"effect": "missense_variant",
"frequency_reference_population": 0.000026105474,
"gene_hgnc_id": 24852,
"gene_symbol": "GMIP",
"gnomad_exomes_ac": 35,
"gnomad_exomes_af": 0.0000240289,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459692,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.397,
"pos": 19629977,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.127,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016573.4"
}
]
}