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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: 20-57374724-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=57374724&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 57374724,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003610.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "NM_003610.4",
"protein_id": "NP_003601.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395841.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003610.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "ENST00000395841.7",
"protein_id": "ENSP00000379182.2",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003610.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395841.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "ENST00000527947.5",
"protein_id": "ENSP00000432609.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 437,
"cds_start": 943,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527947.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "ENST00000395840.6",
"protein_id": "ENSP00000379181.2",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395840.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "NM_001015885.2",
"protein_id": "NP_001015885.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015885.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "ENST00000371242.6",
"protein_id": "ENSP00000360286.2",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371242.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "ENST00000857607.1",
"protein_id": "ENSP00000527666.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857607.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Asp291His",
"transcript": "ENST00000922550.1",
"protein_id": "ENSP00000592609.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 344,
"cds_start": 871,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922550.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Asp286His",
"transcript": "ENST00000947295.1",
"protein_id": "ENSP00000617354.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 339,
"cds_start": 856,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947295.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Asp279His",
"transcript": "ENST00000947294.1",
"protein_id": "ENSP00000617353.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 332,
"cds_start": 835,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947294.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "XM_005260582.3",
"protein_id": "XP_005260639.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260582.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "XM_005260583.3",
"protein_id": "XP_005260640.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260583.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "XM_011529088.3",
"protein_id": "XP_011527390.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529088.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "XM_011529089.2",
"protein_id": "XP_011527391.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 368,
"cds_start": 943,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529089.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His",
"transcript": "XM_011529087.3",
"protein_id": "XP_011527389.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 357,
"cds_start": 943,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529087.3"
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "c.825+986G>C",
"hgvs_p": null,
"transcript": "ENST00000922549.1",
"protein_id": "ENSP00000592608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922549.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "n.2723G>C",
"hgvs_p": null,
"transcript": "ENST00000462438.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000462438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "n.*182G>C",
"hgvs_p": null,
"transcript": "ENST00000492498.5",
"protein_id": "ENSP00000432698.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000492498.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"hgvs_c": "n.*182G>C",
"hgvs_p": null,
"transcript": "ENST00000492498.5",
"protein_id": "ENSP00000432698.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000492498.5"
}
],
"gene_symbol": "RAE1",
"gene_hgnc_id": 9828,
"dbsnp": "rs933510491",
"frequency_reference_population": 0.0000055758005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547236,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7709456086158752,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.408,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8128,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.579,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003610.4",
"gene_symbol": "RAE1",
"hgnc_id": 9828,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.943G>C",
"hgvs_p": "p.Asp315His"
}
],
"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
}