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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: 8-85328586-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=85328586&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 85328586,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000523022.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001128831.4",
"protein_id": "NP_001122303.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "ENST00000523022.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000523022.6",
"protein_id": "ENSP00000429798.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "NM_001128831.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000523953.5",
"protein_id": "ENSP00000430656.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001128829.4",
"protein_id": "NP_001122301.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001128830.4",
"protein_id": "NP_001122302.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001164830.2",
"protein_id": "NP_001158302.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001738.5",
"protein_id": "NP_001729.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000431316.3",
"protein_id": "ENSP00000392338.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000542576.5",
"protein_id": "ENSP00000443517.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 760,
"cds_end": null,
"cds_length": 786,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.562G>C",
"hgvs_p": "p.Gly188Arg",
"transcript": "NM_001291967.2",
"protein_id": "NP_001278896.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 195,
"cds_start": 562,
"cds_end": null,
"cds_length": 588,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.562G>C",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000524324.5",
"protein_id": "ENSP00000428923.1",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 193,
"cds_start": 562,
"cds_end": null,
"cds_length": 583,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.508G>C",
"hgvs_p": "p.Gly170Arg",
"transcript": "ENST00000521679.5",
"protein_id": "ENSP00000429300.1",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 177,
"cds_start": 508,
"cds_end": null,
"cds_length": 534,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.421G>C",
"hgvs_p": "p.Gly141Arg",
"transcript": "NM_001291968.2",
"protein_id": "NP_001278897.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 148,
"cds_start": 421,
"cds_end": null,
"cds_length": 447,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Gly120Arg",
"transcript": "ENST00000522389.5",
"protein_id": "ENSP00000427773.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 127,
"cds_start": 358,
"cds_end": null,
"cds_length": 384,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Gly120Arg",
"transcript": "ENST00000626824.1",
"protein_id": "ENSP00000486171.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 127,
"cds_start": 358,
"cds_end": null,
"cds_length": 384,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.*7G>C",
"hgvs_p": null,
"transcript": "ENST00000517618.5",
"protein_id": "ENSP00000430861.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.*8G>C",
"hgvs_p": null,
"transcript": "ENST00000519991.5",
"protein_id": "ENSP00000430543.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"dbsnp": "rs121909577",
"frequency_reference_population": 0.0000062145227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000549021,
"gnomad_genomes_af": 0.0000131582,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7684798240661621,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.534,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.473,
"phylop100way_prediction": "Benign",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000523022.6",
"gene_symbol": "CA1",
"hgnc_id": 1368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Gly254Arg"
}
],
"clinvar_disease": " Guam,Carbonic anhydrase I",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Carbonic anhydrase I, Guam",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}