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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: 16-20798745-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20798745&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20798745,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000357967.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001142725.2",
"protein_id": "NP_001136197.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 691,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": "ENST00000357967.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "ENST00000357967.9",
"protein_id": "ENSP00000350651.4",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 691,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": "NM_001142725.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.732+518A>G",
"hgvs_p": null,
"transcript": "ENST00000300005.7",
"protein_id": "ENSP00000300005.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Tyr259Cys",
"transcript": "ENST00000563117.5",
"protein_id": "ENSP00000454661.1",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 598,
"cds_start": 776,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Tyr259Cys",
"transcript": "ENST00000564349.5",
"protein_id": "ENSP00000455982.1",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 598,
"cds_start": 776,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 3657,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "n.1445A>G",
"hgvs_p": null,
"transcript": "ENST00000562215.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3846,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "n.*505A>G",
"hgvs_p": null,
"transcript": "ENST00000568805.5",
"protein_id": "ENSP00000454720.1",
"transcript_support_level": 2,
"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": 2579,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "n.*505A>G",
"hgvs_p": null,
"transcript": "ENST00000568805.5",
"protein_id": "ENSP00000454720.1",
"transcript_support_level": 2,
"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": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.732+518A>G",
"hgvs_p": null,
"transcript": "NM_080663.3",
"protein_id": "NP_542394.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "c.732+518A>G",
"hgvs_p": null,
"transcript": "ENST00000569729.5",
"protein_id": "ENSP00000457488.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": -4,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2646,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"hgvs_c": "n.623+518A>G",
"hgvs_p": null,
"transcript": "ENST00000562987.1",
"protein_id": null,
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERI2",
"gene_hgnc_id": 30541,
"dbsnp": "rs3213646",
"frequency_reference_population": 0.5333592,
"hom_count_reference_population": 233006,
"allele_count_reference_population": 827414,
"gnomad_exomes_af": 0.544923,
"gnomad_genomes_af": 0.426936,
"gnomad_exomes_ac": 762501,
"gnomad_genomes_ac": 64913,
"gnomad_exomes_homalt": 216603,
"gnomad_genomes_homalt": 16403,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000022722977519151755,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.018,
"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": -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": "ENST00000357967.9",
"gene_symbol": "ERI2",
"hgnc_id": 30541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Tyr352Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}