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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: 20-1228538-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1228538&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1228538,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001136566.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "NM_001384355.1",
"protein_id": "NP_001371284.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 555,
"cds_start": 85,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683101.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384355.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "ENST00000683101.1",
"protein_id": "ENSP00000507397.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 555,
"cds_start": 85,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384355.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683101.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "ENST00000409241.5",
"protein_id": "ENSP00000386414.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 556,
"cds_start": 85,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409241.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "NM_001136566.3",
"protein_id": "NP_001130038.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 556,
"cds_start": 85,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136566.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "ENST00000402452.5",
"protein_id": "ENSP00000385925.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 521,
"cds_start": 85,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402452.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "ENST00000947764.1",
"protein_id": "ENSP00000617823.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 517,
"cds_start": 85,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947764.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "ENST00000246108.3",
"protein_id": "ENSP00000246108.3",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 64,
"cds_start": 85,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246108.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "XM_006723602.3",
"protein_id": "XP_006723665.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 564,
"cds_start": 85,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723602.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "XM_006723603.3",
"protein_id": "XP_006723666.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 564,
"cds_start": 85,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723603.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "XM_011529317.3",
"protein_id": "XP_011527619.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 564,
"cds_start": 85,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529317.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "XM_006723604.3",
"protein_id": "XP_006723667.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 563,
"cds_start": 85,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723604.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "XM_006723605.4",
"protein_id": "XP_006723668.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 556,
"cds_start": 85,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723605.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu",
"transcript": "XM_047440371.1",
"protein_id": "XP_047296327.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 555,
"cds_start": 85,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.-90+2398A>G",
"hgvs_p": null,
"transcript": "NM_001384356.1",
"protein_id": "NP_001371285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "c.-165+2398A>G",
"hgvs_p": null,
"transcript": "NM_001384357.1",
"protein_id": "NP_001371286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"hgvs_c": "n.214A>G",
"hgvs_p": null,
"transcript": "XR_937124.2",
"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": "XR_937124.2"
}
],
"gene_symbol": "RAD21L1",
"gene_hgnc_id": 16271,
"dbsnp": "rs1161340148",
"frequency_reference_population": 0.000003869884,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 7.15212e-7,
"gnomad_genomes_af": 0.0000328412,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8521743416786194,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.74,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.246,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001136566.3",
"gene_symbol": "RAD21L1",
"hgnc_id": 16271,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Lys29Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}