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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: 17-64551607-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64551607&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64551607,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022739.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "c.1846A>G",
"hgvs_p": "p.Thr616Ala",
"transcript": "NM_022739.4",
"protein_id": "NP_073576.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 748,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262435.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022739.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "c.1846A>G",
"hgvs_p": "p.Thr616Ala",
"transcript": "ENST00000262435.14",
"protein_id": "ENSP00000262435.9",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 748,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022739.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262435.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "n.*1668A>G",
"hgvs_p": null,
"transcript": "ENST00000578386.5",
"protein_id": "ENSP00000464432.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578386.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "n.*1668A>G",
"hgvs_p": null,
"transcript": "ENST00000578386.5",
"protein_id": "ENSP00000464432.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578386.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "ENST00000935092.1",
"protein_id": "ENSP00000605151.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 754,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935092.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Thr594Ala",
"transcript": "ENST00000935093.1",
"protein_id": "ENSP00000605152.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 726,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935093.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "c.1852A>G",
"hgvs_p": "p.Thr618Ala",
"transcript": "XM_047436546.1",
"protein_id": "XP_047292502.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 750,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436546.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "c.1807A>G",
"hgvs_p": "p.Thr603Ala",
"transcript": "XM_005257585.4",
"protein_id": "XP_005257642.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 735,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257585.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "n.*1753A>G",
"hgvs_p": null,
"transcript": "ENST00000582081.5",
"protein_id": "ENSP00000463531.1",
"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": "ENST00000582081.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"hgvs_c": "n.*1753A>G",
"hgvs_p": null,
"transcript": "ENST00000582081.5",
"protein_id": "ENSP00000463531.1",
"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": "ENST00000582081.5"
}
],
"gene_symbol": "SMURF2",
"gene_hgnc_id": 16809,
"dbsnp": "rs528473359",
"frequency_reference_population": 0.00008364053,
"hom_count_reference_population": 1,
"allele_count_reference_population": 135,
"gnomad_exomes_af": 0.0000834638,
"gnomad_genomes_af": 0.0000853366,
"gnomad_exomes_ac": 122,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02097383141517639,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.0621,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.269,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022739.4",
"gene_symbol": "SMURF2",
"hgnc_id": 16809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1846A>G",
"hgvs_p": "p.Thr616Ala"
}
],
"clinvar_disease": "SMURF2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SMURF2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}