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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: 2-3499000-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3499000&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3499000,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018269.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "NM_018269.4",
"protein_id": "NP_060739.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 179,
"cds_start": 503,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327435.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018269.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "ENST00000327435.11",
"protein_id": "ENSP00000333666.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 179,
"cds_start": 503,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018269.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327435.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000879405.1",
"protein_id": "ENSP00000549464.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 225,
"cds_start": 641,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000879404.1",
"protein_id": "ENSP00000549463.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 212,
"cds_start": 602,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879404.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "ENST00000879403.1",
"protein_id": "ENSP00000549462.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 177,
"cds_start": 497,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879403.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "ENST00000879407.1",
"protein_id": "ENSP00000549466.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 175,
"cds_start": 491,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879407.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "ENST00000879408.1",
"protein_id": "ENSP00000549467.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 175,
"cds_start": 491,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879408.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "NM_001306077.2",
"protein_id": "NP_001293006.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 173,
"cds_start": 485,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306077.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "ENST00000382093.5",
"protein_id": "ENSP00000371525.5",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 173,
"cds_start": 485,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382093.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152His",
"transcript": "ENST00000879406.1",
"protein_id": "ENSP00000549465.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 163,
"cds_start": 455,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879406.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His",
"transcript": "ENST00000879409.1",
"protein_id": "ENSP00000549468.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 162,
"cds_start": 452,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879409.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128His",
"transcript": "ENST00000879402.1",
"protein_id": "ENSP00000549461.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 139,
"cds_start": 383,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879402.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "ENST00000879401.1",
"protein_id": "ENSP00000549460.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 119,
"cds_start": 323,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879401.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105His",
"transcript": "ENST00000415131.1",
"protein_id": "ENSP00000410178.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 116,
"cds_start": 314,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415131.1"
}
],
"gene_symbol": "ADI1",
"gene_hgnc_id": 30576,
"dbsnp": "rs772279164",
"frequency_reference_population": 0.000027263995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000259981,
"gnomad_genomes_af": 0.0000394208,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8312318921089172,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.481,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.516,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018269.4",
"gene_symbol": "ADI1",
"hgnc_id": 30576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}