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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: 15-98908747-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=98908747&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 98908747,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000650285.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "NM_000875.5",
"protein_id": "NP_000866.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1310,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 12235,
"mane_select": "ENST00000650285.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000650285.1",
"protein_id": "ENSP00000497069.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1310,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 12235,
"mane_select": "NM_000875.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "n.1310G>A",
"hgvs_p": null,
"transcript": "ENST00000559925.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "NM_001291858.2",
"protein_id": "NP_001278787.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1366,
"cds_start": 1310,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 12232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000649865.1",
"protein_id": "ENSP00000496919.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1366,
"cds_start": 1310,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 12232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134His",
"transcript": "ENST00000558898.1",
"protein_id": "ENSP00000454115.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 211,
"cds_start": 401,
"cds_end": null,
"cds_length": 637,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462His",
"transcript": "XM_017022137.2",
"protein_id": "XP_016877626.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1385,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 11534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462His",
"transcript": "XM_047432442.1",
"protein_id": "XP_047288398.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1391,
"cds_start": 1385,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 11251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "XM_047432443.1",
"protein_id": "XP_047288399.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1310,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 11749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "XM_047432444.1",
"protein_id": "XP_047288400.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1366,
"cds_start": 1310,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 11746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "XM_047432445.1",
"protein_id": "XP_047288401.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1246,
"cds_start": 947,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134His",
"transcript": "XM_011521516.3",
"protein_id": "XP_011519818.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 1064,
"cds_start": 401,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 37206,
"cdna_end": null,
"cdna_length": 47088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "n.217G>A",
"hgvs_p": null,
"transcript": "ENST00000559582.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.-26G>A",
"hgvs_p": null,
"transcript": "XM_011521517.3",
"protein_id": "XP_011519819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": -4,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"dbsnp": "rs34516635",
"frequency_reference_population": 0.0035537756,
"hom_count_reference_population": 17,
"allele_count_reference_population": 5736,
"gnomad_exomes_af": 0.00363318,
"gnomad_genomes_af": 0.00279139,
"gnomad_exomes_ac": 5311,
"gnomad_genomes_ac": 425,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008615285158157349,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.0606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.98,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650285.1",
"gene_symbol": "IGF1R",
"hgnc_id": 5465,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His"
}
],
"clinvar_disease": "Growth delay due to insulin-like growth factor I resistance,IGF1R-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1",
"phenotype_combined": "not specified|not provided|Growth delay due to insulin-like growth factor I resistance|IGF1R-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}