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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: 2-157321398-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=157321398&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 157321398,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001009959.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "NM_020711.3",
"protein_id": "NP_065762.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 284,
"cds_start": 728,
"cds_end": null,
"cds_length": 855,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": "ENST00000410096.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020711.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "ENST00000410096.6",
"protein_id": "ENSP00000387047.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 284,
"cds_start": 728,
"cds_end": null,
"cds_length": 855,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": "NM_020711.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410096.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.767C>G",
"hgvs_p": "p.Thr256Ser",
"transcript": "NM_001009959.3",
"protein_id": "NP_001009959.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 297,
"cds_start": 767,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009959.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.767C>G",
"hgvs_p": "p.Thr256Ser",
"transcript": "ENST00000397283.6",
"protein_id": "ENSP00000380453.2",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 297,
"cds_start": 767,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397283.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "NM_001304344.2",
"protein_id": "NP_001291273.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 284,
"cds_start": 728,
"cds_end": null,
"cds_length": 855,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304344.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "NM_001304345.2",
"protein_id": "NP_001291274.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 284,
"cds_start": 728,
"cds_end": null,
"cds_length": 855,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304345.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "ENST00000875547.1",
"protein_id": "ENSP00000545606.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 284,
"cds_start": 728,
"cds_end": null,
"cds_length": 855,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875547.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.728C>G",
"hgvs_p": "p.Thr243Ser",
"transcript": "ENST00000875548.1",
"protein_id": "ENSP00000545607.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 284,
"cds_start": 728,
"cds_end": null,
"cds_length": 855,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875548.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Thr240Ser",
"transcript": "ENST00000875546.1",
"protein_id": "ENSP00000545605.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 281,
"cds_start": 719,
"cds_end": null,
"cds_length": 846,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875546.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Ser",
"transcript": "NM_001304346.2",
"protein_id": "NP_001291275.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 264,
"cds_start": 668,
"cds_end": null,
"cds_length": 795,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304346.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Ser",
"transcript": "ENST00000420719.6",
"protein_id": "ENSP00000410646.2",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 264,
"cds_start": 668,
"cds_end": null,
"cds_length": 795,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420719.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "n.*579C>G",
"hgvs_p": null,
"transcript": "ENST00000409395.3",
"protein_id": "ENSP00000387339.3",
"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": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409395.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "n.*579C>G",
"hgvs_p": null,
"transcript": "ENST00000409395.3",
"protein_id": "ENSP00000387339.3",
"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": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409395.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ERMN",
"gene_hgnc_id": 29208,
"hgvs_c": "c.*247C>G",
"hgvs_p": null,
"transcript": "ENST00000420317.5",
"protein_id": "ENSP00000398149.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420317.5"
}
],
"gene_symbol": "ERMN",
"gene_hgnc_id": 29208,
"dbsnp": "rs767158796",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017829596996307373,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.602,
"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_001009959.3",
"gene_symbol": "ERMN",
"hgnc_id": 29208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.767C>G",
"hgvs_p": "p.Thr256Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}