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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: 19-7125462-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7125462&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7125462,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000302850.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3079C>T",
"hgvs_p": "p.Arg1027*",
"transcript": "NM_000208.4",
"protein_id": "NP_000199.2",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3079,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 9463,
"mane_select": "ENST00000302850.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3079C>T",
"hgvs_p": "p.Arg1027*",
"transcript": "ENST00000302850.10",
"protein_id": "ENSP00000303830.4",
"transcript_support_level": 1,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3079,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 9463,
"mane_select": "NM_000208.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Arg1015*",
"transcript": "ENST00000341500.9",
"protein_id": "ENSP00000342838.4",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3043,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3083,
"cdna_end": null,
"cdna_length": 8954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Arg1015*",
"transcript": "NM_001079817.3",
"protein_id": "NP_001073285.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3043,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 9427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3076C>T",
"hgvs_p": "p.Arg1026*",
"transcript": "XM_011527988.3",
"protein_id": "XP_011526290.2",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3076,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3599,
"cdna_end": null,
"cdna_length": 9460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "c.3040C>T",
"hgvs_p": "p.Arg1014*",
"transcript": "XM_011527989.4",
"protein_id": "XP_011526291.2",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3040,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 9424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"hgvs_c": "n.-76C>T",
"hgvs_p": null,
"transcript": "ENST00000593970.1",
"protein_id": null,
"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": 419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INSR",
"gene_hgnc_id": 6091,
"dbsnp": "rs121913144",
"frequency_reference_population": 0.0000024784254,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205222,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.304,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000302850.10",
"gene_symbol": "INSR",
"hgnc_id": 6091,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3079C>T",
"hgvs_p": "p.Arg1027*"
}
],
"clinvar_disease": "Insulin-resistant diabetes mellitus AND acanthosis nigricans,Rabson-Mendenhall syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Rabson-Mendenhall syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}