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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: 15-98957071-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=98957071&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 98957071,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000875.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3733A>C",
"hgvs_p": "p.Met1245Leu",
"transcript": "NM_000875.5",
"protein_id": "NP_000866.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3733,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650285.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000875.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3733A>C",
"hgvs_p": "p.Met1245Leu",
"transcript": "ENST00000650285.1",
"protein_id": "ENSP00000497069.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3733,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000875.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650285.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3730A>C",
"hgvs_p": "p.Met1244Leu",
"transcript": "NM_001291858.2",
"protein_id": "NP_001278787.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3730,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291858.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3730A>C",
"hgvs_p": "p.Met1244Leu",
"transcript": "ENST00000649865.1",
"protein_id": "ENSP00000496919.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3730,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649865.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3808A>C",
"hgvs_p": "p.Met1270Leu",
"transcript": "XM_017022137.2",
"protein_id": "XP_016877626.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3808,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022137.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3805A>C",
"hgvs_p": "p.Met1269Leu",
"transcript": "XM_047432442.1",
"protein_id": "XP_047288398.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3805,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432442.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3733A>C",
"hgvs_p": "p.Met1245Leu",
"transcript": "XM_047432443.1",
"protein_id": "XP_047288399.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3733,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432443.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3730A>C",
"hgvs_p": "p.Met1244Leu",
"transcript": "XM_047432444.1",
"protein_id": "XP_047288400.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3730,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432444.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3370A>C",
"hgvs_p": "p.Met1124Leu",
"transcript": "XM_047432445.1",
"protein_id": "XP_047288401.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3370,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432445.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.2824A>C",
"hgvs_p": "p.Met942Leu",
"transcript": "XM_011521516.3",
"protein_id": "XP_011519818.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521516.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.2398A>C",
"hgvs_p": "p.Met800Leu",
"transcript": "XM_011521517.3",
"protein_id": "XP_011519819.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 922,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521517.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "n.327A>C",
"hgvs_p": null,
"transcript": "ENST00000558751.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558751.1"
},
{
"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": "SYNM-AS1",
"gene_hgnc_id": 55421,
"hgvs_c": "n.349-2683T>G",
"hgvs_p": null,
"transcript": "ENST00000559468.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000559468.1"
}
],
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"dbsnp": "rs2017020177",
"frequency_reference_population": 6.8405814e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84058e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9037117958068848,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.804,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.294,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000875.5",
"gene_symbol": "IGF1R",
"hgnc_id": 5465,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3733A>C",
"hgvs_p": "p.Met1245Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000559468.1",
"gene_symbol": "SYNM-AS1",
"hgnc_id": 55421,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.349-2683T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}