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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: 3-15269818-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15269818&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15269818,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000383791.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.390T>C",
"hgvs_p": "p.Arg130Arg",
"transcript": "NM_004844.5",
"protein_id": "NP_004835.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 455,
"cds_start": 390,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "ENST00000383791.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.390T>C",
"hgvs_p": "p.Arg130Arg",
"transcript": "ENST00000383791.8",
"protein_id": "ENSP00000373301.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 455,
"cds_start": 390,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "NM_004844.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "ENST00000408919.7",
"protein_id": "ENSP00000386231.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.369T>C",
"hgvs_p": "p.Arg123Arg",
"transcript": "XM_017007525.2",
"protein_id": "XP_016863014.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 448,
"cds_start": 369,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.351T>C",
"hgvs_p": "p.Arg117Arg",
"transcript": "XM_047449240.1",
"protein_id": "XP_047305196.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 442,
"cds_start": 351,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Arg90Arg",
"transcript": "XM_011534251.3",
"protein_id": "XP_011532553.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 415,
"cds_start": 270,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.390T>C",
"hgvs_p": "p.Arg130Arg",
"transcript": "XM_047449241.1",
"protein_id": "XP_047305197.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 368,
"cds_start": 390,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Arg90Arg",
"transcript": "XM_047449242.1",
"protein_id": "XP_047305198.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 328,
"cds_start": 270,
"cds_end": null,
"cds_length": 987,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "n.*248T>C",
"hgvs_p": null,
"transcript": "ENST00000450625.1",
"protein_id": "ENSP00000389484.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "NM_001018009.4",
"protein_id": "NP_001018009.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "ENST00000426925.5",
"protein_id": "ENSP00000388553.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "ENST00000366391.6",
"protein_id": "ENSP00000394115.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "ENST00000417936.5",
"protein_id": "ENSP00000408246.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "XM_047449244.1",
"protein_id": "XP_047305200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "c.-82T>C",
"hgvs_p": null,
"transcript": "XM_047449245.1",
"protein_id": "XP_047305201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "n.*248T>C",
"hgvs_p": null,
"transcript": "ENST00000450625.1",
"protein_id": "ENSP00000389484.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "n.139-10935T>C",
"hgvs_p": null,
"transcript": "ENST00000412806.1",
"protein_id": "ENSP00000400128.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"hgvs_c": "n.*25T>C",
"hgvs_p": null,
"transcript": "ENST00000465894.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH3BP5",
"gene_hgnc_id": 10827,
"dbsnp": "rs1287467",
"frequency_reference_population": 0.6562811,
"hom_count_reference_population": 356041,
"allele_count_reference_population": 1053725,
"gnomad_exomes_af": 0.658944,
"gnomad_genomes_af": 0.630849,
"gnomad_exomes_ac": 957730,
"gnomad_genomes_ac": 95995,
"gnomad_exomes_homalt": 324836,
"gnomad_genomes_homalt": 31205,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"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": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.258,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000383791.8",
"gene_symbol": "SH3BP5",
"hgnc_id": 10827,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.390T>C",
"hgvs_p": "p.Arg130Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}