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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: 20-1478415-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1478415&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1478415,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001122962.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Glu215Gly",
"transcript": "NM_001122962.2",
"protein_id": "NP_001116434.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 342,
"cds_start": 644,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "ENST00000359801.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122962.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Glu215Gly",
"transcript": "ENST00000359801.8",
"protein_id": "ENSP00000352849.3",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 342,
"cds_start": 644,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "NM_001122962.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359801.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.374A>G",
"hgvs_p": null,
"transcript": "ENST00000381630.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000381630.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "NM_001134836.2",
"protein_id": "NP_001128308.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 244,
"cds_start": 350,
"cds_end": null,
"cds_length": 735,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134836.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000444444.2",
"protein_id": "ENSP00000402438.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 244,
"cds_start": 350,
"cds_end": null,
"cds_length": 735,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444444.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Glu215Gly",
"transcript": "XM_047440127.1",
"protein_id": "XP_047296083.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 370,
"cds_start": 644,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440127.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Glu215Gly",
"transcript": "XM_005260708.5",
"protein_id": "XP_005260765.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 348,
"cds_start": 644,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260708.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Glu168Gly",
"transcript": "XM_047440128.1",
"protein_id": "XP_047296084.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 323,
"cds_start": 503,
"cds_end": null,
"cds_length": 972,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440128.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Glu215Gly",
"transcript": "XM_047440129.1",
"protein_id": "XP_047296085.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 289,
"cds_start": 644,
"cds_end": null,
"cds_length": 870,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440129.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "XM_047440130.1",
"protein_id": "XP_047296086.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 272,
"cds_start": 350,
"cds_end": null,
"cds_length": 819,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440130.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "XM_005260709.4",
"protein_id": "XP_005260766.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 250,
"cds_start": 350,
"cds_end": null,
"cds_length": 753,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260709.4"
},
{
"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": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "c.452-1012A>G",
"hgvs_p": null,
"transcript": "ENST00000965661.1",
"protein_id": "ENSP00000635720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.644A>G",
"hgvs_p": null,
"transcript": "ENST00000481731.5",
"protein_id": "ENSP00000432656.1",
"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": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481731.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.644A>G",
"hgvs_p": null,
"transcript": "ENST00000486775.5",
"protein_id": "ENSP00000435045.1",
"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": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486775.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.476A>G",
"hgvs_p": null,
"transcript": "ENST00000608747.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 531,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000608747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.705A>G",
"hgvs_p": null,
"transcript": "XR_007067451.1",
"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": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.705A>G",
"hgvs_p": null,
"transcript": "XR_007067452.1",
"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": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.411A>G",
"hgvs_p": null,
"transcript": "XR_007067453.1",
"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": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"hgvs_c": "n.*252A>G",
"hgvs_p": null,
"transcript": "ENST00000608073.1",
"protein_id": "ENSP00000477149.1",
"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": 478,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000608073.1"
}
],
"gene_symbol": "SIRPB2",
"gene_hgnc_id": 16247,
"dbsnp": "rs6042507",
"frequency_reference_population": 0.0000013681014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04811519384384155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.291,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001122962.2",
"gene_symbol": "SIRPB2",
"hgnc_id": 16247,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.644A>G",
"hgvs_p": "p.Glu215Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}