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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: 17-2304032-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2304032&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2304032,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000344595.10",
"consequences": [
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-5+15G>A",
"hgvs_p": null,
"transcript": "NM_021947.3",
"protein_id": "NP_068766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": "ENST00000344595.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-5+15G>A",
"hgvs_p": null,
"transcript": "ENST00000344595.10",
"protein_id": "ENSP00000339435.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": "NM_021947.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-5+555G>A",
"hgvs_p": null,
"transcript": "ENST00000572709.5",
"protein_id": "ENSP00000458814.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": -4,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-280+15G>A",
"hgvs_p": null,
"transcript": "NM_001304803.1",
"protein_id": "NP_001291732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-5+15G>A",
"hgvs_p": null,
"transcript": "ENST00000576620.5",
"protein_id": "ENSP00000461125.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-85+15G>A",
"hgvs_p": null,
"transcript": "ENST00000576848.1",
"protein_id": "ENSP00000476682.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-219+15G>A",
"hgvs_p": null,
"transcript": "ENST00000575840.5",
"protein_id": "ENSP00000461589.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-280+15G>A",
"hgvs_p": null,
"transcript": "ENST00000574987.1",
"protein_id": "ENSP00000461343.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.-5+555G>A",
"hgvs_p": null,
"transcript": "XM_006721565.4",
"protein_id": "XP_006721628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "NM_017575.5",
"protein_id": "NP_060045.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": -4,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "ENST00000263073.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "ENST00000263073.11",
"protein_id": "ENSP00000263073.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": -4,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "NM_017575.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-548C>T",
"hgvs_p": null,
"transcript": "XM_011523769.3",
"protein_id": "XP_011522071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1388,
"cds_start": -4,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "XM_047435697.1",
"protein_id": "XP_047291653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1119,
"cds_start": -4,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "XM_011523772.3",
"protein_id": "XP_011522074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "XM_017024398.2",
"protein_id": "XP_016879887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 944,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "XM_047435698.1",
"protein_id": "XP_047291654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "XM_005256570.4",
"protein_id": "XP_005256627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
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"cds_length": 2700,
"cdna_start": null,
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"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.-312C>T",
"hgvs_p": null,
"transcript": "XM_011523774.3",
"protein_id": "XP_011522076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 897,
"cds_start": -4,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
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"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"dbsnp": "rs3744270",
"frequency_reference_population": 0.2881706,
"hom_count_reference_population": 12277,
"allele_count_reference_population": 70743,
"gnomad_exomes_af": 0.343626,
"gnomad_genomes_af": 0.253999,
"gnomad_exomes_ac": 32162,
"gnomad_genomes_ac": 38581,
"gnomad_exomes_homalt": 5935,
"gnomad_genomes_homalt": 6342,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.918,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000344595.10",
"gene_symbol": "SRR",
"hgnc_id": 14398,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-5+15G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000263073.11",
"gene_symbol": "SMG6",
"hgnc_id": 17809,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-312C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}