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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: 9-20715373-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=20715373&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 20715373,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001375567.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "NM_001375567.1",
"protein_id": "NP_001362496.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1801,
"cds_start": 20,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": "ENST00000338382.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "ENST00000338382.11",
"protein_id": "ENSP00000344307.6",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1801,
"cds_start": 20,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": "NM_001375567.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "ENST00000380249.5",
"protein_id": "ENSP00000369599.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1801,
"cds_start": 20,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "NM_017794.5",
"protein_id": "NP_060264.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1801,
"cds_start": 20,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "NM_001375568.1",
"protein_id": "NP_001362497.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1766,
"cds_start": 20,
"cds_end": null,
"cds_length": 5301,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "NM_001375570.1",
"protein_id": "NP_001362499.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1766,
"cds_start": 20,
"cds_end": null,
"cds_length": 5301,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.164A>G",
"hgvs_p": "p.Lys55Arg",
"transcript": "XM_017014852.2",
"protein_id": "XP_016870341.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1876,
"cds_start": 164,
"cds_end": null,
"cds_length": 5631,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Lys38Arg",
"transcript": "XM_047423531.1",
"protein_id": "XP_047279487.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1859,
"cds_start": 113,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 6442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "XM_047423532.1",
"protein_id": "XP_047279488.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 1856,
"cds_start": 185,
"cds_end": null,
"cds_length": 5571,
"cdna_start": 10259,
"cdna_end": null,
"cdna_length": 15966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.164A>G",
"hgvs_p": "p.Lys55Arg",
"transcript": "XM_047423533.1",
"protein_id": "XP_047279489.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1849,
"cds_start": 164,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Lys40Arg",
"transcript": "XM_047423536.1",
"protein_id": "XP_047279492.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 1834,
"cds_start": 119,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 6623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "XM_017014855.2",
"protein_id": "XP_016870344.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1828,
"cds_start": 20,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "XM_017014856.2",
"protein_id": "XP_016870345.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1828,
"cds_start": 20,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "XM_047423534.1",
"protein_id": "XP_047279490.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 1821,
"cds_start": 185,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 10259,
"cdna_end": null,
"cdna_length": 15861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "XM_047423535.1",
"protein_id": "XP_047279491.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 1821,
"cds_start": 185,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 10259,
"cdna_end": null,
"cdna_length": 15861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "XM_047423537.1",
"protein_id": "XP_047279493.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1801,
"cds_start": 20,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 3254,
"cdna_end": null,
"cdna_length": 8961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "XM_047423538.1",
"protein_id": "XP_047279494.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1801,
"cds_start": 20,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "XM_047423539.1",
"protein_id": "XP_047279495.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1766,
"cds_start": 20,
"cds_end": null,
"cds_length": 5301,
"cdna_start": 3254,
"cdna_end": null,
"cdna_length": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg",
"transcript": "XM_047423540.1",
"protein_id": "XP_047279496.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1731,
"cds_start": 20,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"dbsnp": "rs1825246386",
"frequency_reference_population": 0.0000014552863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000145529,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.261133074760437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.352,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375567.1",
"gene_symbol": "FOCAD",
"hgnc_id": 23377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20A>G",
"hgvs_p": "p.Lys7Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}