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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: 4-67625051-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=67625051&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "UBA6",
"hgnc_id": 25581,
"hgvs_c": "c.2654_2655delGCinsTT",
"hgvs_p": "p.Arg885Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018227.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "R",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9540,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018227.6",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2654_2655delGCinsTT",
"hgvs_p": "p.Arg885Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322244.10",
"protein_coding": true,
"protein_id": "NP_060697.4",
"strand": false,
"transcript": "NM_018227.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "R",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9540,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000322244.10",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2654_2655delGCinsTT",
"hgvs_p": "p.Arg885Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018227.6",
"protein_coding": true,
"protein_id": "ENSP00000313454.4",
"strand": false,
"transcript": "ENST00000322244.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4941,
"cdna_start": 2727,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2672,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907530.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2672_2673delGCinsTT",
"hgvs_p": "p.Arg891Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577589.1",
"strand": false,
"transcript": "ENST00000907530.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "R",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2660,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907528.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2660_2661delGCinsTT",
"hgvs_p": "p.Arg887Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577587.1",
"strand": false,
"transcript": "ENST00000907528.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "R",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 2670,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928865.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2645_2646delGCinsTT",
"hgvs_p": "p.Arg882Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598924.1",
"strand": false,
"transcript": "ENST00000928865.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "R",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2618,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928867.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2618_2619delGCinsTT",
"hgvs_p": "p.Arg873Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598926.1",
"strand": false,
"transcript": "ENST00000928867.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "R",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5314,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928866.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2591_2592delGCinsTT",
"hgvs_p": "p.Arg864Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598925.1",
"strand": false,
"transcript": "ENST00000928866.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "R",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5330,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907529.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2582_2583delGCinsTT",
"hgvs_p": "p.Arg861Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577588.1",
"strand": false,
"transcript": "ENST00000907529.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "R",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5326,
"cdna_start": 2634,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968080.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2582_2583delGCinsTT",
"hgvs_p": "p.Arg861Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638139.1",
"strand": false,
"transcript": "ENST00000968080.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4807,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907531.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2576_2577delGCinsTT",
"hgvs_p": "p.Arg859Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577590.1",
"strand": false,
"transcript": "ENST00000907531.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9383,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928864.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2510_2511delGCinsTT",
"hgvs_p": "p.Arg837Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598923.1",
"strand": false,
"transcript": "ENST00000928864.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5320,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017008359.3",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "c.2654_2655delGCinsTT",
"hgvs_p": "p.Arg885Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863848.1",
"strand": false,
"transcript": "XM_017008359.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000514261.1",
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"hgvs_c": "n.104_105delGCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425091.1",
"strand": false,
"transcript": "ENST00000514261.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25581,
"gene_symbol": "UBA6",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Uncertain_significance",
"phylop100way_score": 7.085,
"pos": 67625051,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_018227.6"
}
]
}