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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: 11-2160956-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2160956&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2160956,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000397270.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "NM_000207.3",
"protein_id": "NP_000198.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 465,
"mane_select": "ENST00000381330.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "ENST00000381330.5",
"protein_id": "ENSP00000370731.5",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 465,
"mane_select": "NM_000207.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS-IGF2",
"gene_hgnc_id": 33527,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "ENST00000397270.1",
"protein_id": "ENSP00000380440.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 200,
"cds_start": 16,
"cds_end": null,
"cds_length": 603,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "ENST00000250971.7",
"protein_id": "ENSP00000250971.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "ENST00000397262.5",
"protein_id": "ENSP00000380432.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "ENST00000512523.1",
"protein_id": "ENSP00000424008.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 98,
"cds_start": 16,
"cds_end": null,
"cds_length": 297,
"cdna_start": 16,
"cdna_end": null,
"cdna_length": 297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS-IGF2",
"gene_hgnc_id": 33527,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "NM_001042376.3",
"protein_id": "NP_001035835.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 200,
"cds_start": 16,
"cds_end": null,
"cds_length": 603,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "NM_001185097.2",
"protein_id": "NP_001172026.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "NM_001185098.2",
"protein_id": "NP_001172027.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "NM_001291897.2",
"protein_id": "NP_001278826.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 110,
"cds_start": 16,
"cds_end": null,
"cds_length": 333,
"cdna_start": 135,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS-IGF2",
"gene_hgnc_id": 33527,
"hgvs_c": "n.16C>T",
"hgvs_p": null,
"transcript": "ENST00000356578.8",
"protein_id": "ENSP00000348986.4",
"transcript_support_level": 5,
"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": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS",
"gene_hgnc_id": 6081,
"hgvs_c": "n.16C>T",
"hgvs_p": null,
"transcript": "ENST00000421783.1",
"protein_id": "ENSP00000408400.1",
"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": 464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INS-IGF2",
"gene_hgnc_id": 33527,
"hgvs_c": "n.75C>T",
"hgvs_p": null,
"transcript": "NR_003512.4",
"protein_id": null,
"transcript_support_level": null,
"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": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.174+2042G>A",
"hgvs_p": null,
"transcript": "ENST00000729705.1",
"protein_id": null,
"transcript_support_level": null,
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.225+2042G>A",
"hgvs_p": null,
"transcript": "ENST00000729706.1",
"protein_id": null,
"transcript_support_level": null,
"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": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INS-IGF2",
"gene_hgnc_id": 33527,
"dbsnp": "rs121908278",
"frequency_reference_population": 0.000013645324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000123283,
"gnomad_genomes_af": 0.0000262778,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6946718692779541,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.458,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.279,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.843,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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,PM5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PM5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000397270.1",
"gene_symbol": "INS-IGF2",
"hgnc_id": 33527,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM5",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000381330.5",
"gene_symbol": "INS",
"hgnc_id": 6081,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000729705.1",
"gene_symbol": "ENSG00000295384",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.174+2042G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Maturity-onset diabetes of the young type 10",
"clinvar_classification": "Likely risk allele",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "Maturity-onset diabetes of the young type 10",
"pathogenicity_classification_combined": "Likely risk allele",
"custom_annotations": null
}
],
"message": null
}