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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: 19-7119563-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7119563&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7119563,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000302850.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3680G>C",
"hgvs_p": "p.Trp1227Ser",
"transcript": "NM_000208.4",
"protein_id": "NP_000199.2",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4203,
"cdna_end": null,
"cdna_length": 9463,
"mane_select": "ENST00000302850.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3680G>C",
"hgvs_p": "p.Trp1227Ser",
"transcript": "ENST00000302850.10",
"protein_id": "ENSP00000303830.4",
"transcript_support_level": 1,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4203,
"cdna_end": null,
"cdna_length": 9463,
"mane_select": "NM_000208.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3644G>C",
"hgvs_p": "p.Trp1215Ser",
"transcript": "ENST00000341500.9",
"protein_id": "ENSP00000342838.4",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3684,
"cdna_end": null,
"cdna_length": 8954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3644G>C",
"hgvs_p": "p.Trp1215Ser",
"transcript": "NM_001079817.3",
"protein_id": "NP_001073285.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 9427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3677G>C",
"hgvs_p": "p.Trp1226Ser",
"transcript": "XM_011527988.3",
"protein_id": "XP_011526290.2",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 9460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3641G>C",
"hgvs_p": "p.Trp1214Ser",
"transcript": "XM_011527989.4",
"protein_id": "XP_011526291.2",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3641,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4164,
"cdna_end": null,
"cdna_length": 9424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"dbsnp": "rs121913140",
"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": 0.9928122162818909,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.91,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.574,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000302850.10",
"gene_symbol": "INSR",
"hgnc_id": 6091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3680G>C",
"hgvs_p": "p.Trp1227Ser"
}
],
"clinvar_disease": "Insulin-resistant diabetes mellitus AND acanthosis nigricans",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Insulin-resistant diabetes mellitus AND acanthosis nigricans",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}