← 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: 1-213005404-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=213005404&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 213005404,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144567.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "NM_144567.5",
"protein_id": "NP_653168.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 544,
"cds_start": 763,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366962.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144567.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "ENST00000366962.8",
"protein_id": "ENSP00000355929.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 544,
"cds_start": 763,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144567.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366962.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Ala86Thr",
"transcript": "ENST00000360506.6",
"protein_id": "ENSP00000353696.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 375,
"cds_start": 256,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360506.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Ala86Thr",
"transcript": "ENST00000535388.2",
"protein_id": "ENSP00000438141.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 375,
"cds_start": 256,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535388.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "ENST00000917618.1",
"protein_id": "ENSP00000587677.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 577,
"cds_start": 763,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917618.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Ala129Thr",
"transcript": "NM_001300753.2",
"protein_id": "NP_001287682.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 418,
"cds_start": 385,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300753.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Ala129Thr",
"transcript": "NM_001300755.2",
"protein_id": "NP_001287684.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 418,
"cds_start": 385,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300755.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Ala111Thr",
"transcript": "ENST00000917619.1",
"protein_id": "ENSP00000587678.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 400,
"cds_start": 331,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917619.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Ala86Thr",
"transcript": "NM_001300757.2",
"protein_id": "NP_001287686.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 375,
"cds_start": 256,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300757.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Ala86Thr",
"transcript": "NM_001300758.2",
"protein_id": "NP_001287687.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 375,
"cds_start": 256,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300758.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "XM_005273344.2",
"protein_id": "XP_005273401.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 522,
"cds_start": 697,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273344.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "XM_005273345.2",
"protein_id": "XP_005273402.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 522,
"cds_start": 697,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273345.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "XM_005273346.3",
"protein_id": "XP_005273403.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 522,
"cds_start": 697,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273346.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"transcript": "XM_017002774.2",
"protein_id": "XP_016858263.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 522,
"cds_start": 697,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002774.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"transcript": "XM_005273347.4",
"protein_id": "XP_005273404.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 465,
"cds_start": 526,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273347.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Ala129Thr",
"transcript": "XM_047433784.1",
"protein_id": "XP_047289740.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 418,
"cds_start": 385,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433784.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"transcript": "XM_047433785.1",
"protein_id": "XP_047289741.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 381,
"cds_start": 763,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433785.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "c.385+7689G>A",
"hgvs_p": null,
"transcript": "ENST00000917617.1",
"protein_id": "ENSP00000587676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917617.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "n.634G>A",
"hgvs_p": null,
"transcript": "ENST00000476904.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000476904.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"hgvs_c": "n.633G>A",
"hgvs_p": null,
"transcript": "NR_125333.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_125333.2"
}
],
"gene_symbol": "ANGEL2",
"gene_hgnc_id": 30534,
"dbsnp": "rs749390709",
"frequency_reference_population": 0.000033469565,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000342187,
"gnomad_genomes_af": 0.0000262781,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9719594717025757,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.956,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.476,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144567.5",
"gene_symbol": "ANGEL2",
"hgnc_id": 30534,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr"
}
],
"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
}