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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: 9-75133399-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=75133399&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 75133399,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_012383.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg",
"transcript": "NM_012383.5",
"protein_id": "NP_036515.4",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 214,
"cds_start": 356,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346234.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012383.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg",
"transcript": "ENST00000346234.7",
"protein_id": "ENSP00000340836.6",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 214,
"cds_start": 356,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346234.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.Lys135Arg",
"transcript": "ENST00000857346.1",
"protein_id": "ENSP00000527405.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 230,
"cds_start": 404,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857346.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Lys122Arg",
"transcript": "ENST00000857342.1",
"protein_id": "ENSP00000527401.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 217,
"cds_start": 365,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857342.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg",
"transcript": "ENST00000857348.1",
"protein_id": "ENSP00000527407.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 212,
"cds_start": 356,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857348.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg",
"transcript": "ENST00000857344.1",
"protein_id": "ENSP00000527403.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 210,
"cds_start": 356,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857344.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000857343.1",
"protein_id": "ENSP00000527402.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 208,
"cds_start": 338,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857343.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Lys108Arg",
"transcript": "ENST00000934388.1",
"protein_id": "ENSP00000604447.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 203,
"cds_start": 323,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934388.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Lys102Arg",
"transcript": "ENST00000857345.1",
"protein_id": "ENSP00000527404.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 197,
"cds_start": 305,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857345.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg",
"transcript": "ENST00000857341.1",
"protein_id": "ENSP00000527400.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 181,
"cds_start": 356,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857341.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Lys122Arg",
"transcript": "XM_006717053.4",
"protein_id": "XP_006717116.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 217,
"cds_start": 365,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717053.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.278A>G",
"hgvs_p": "p.Lys93Arg",
"transcript": "XM_011518524.3",
"protein_id": "XP_011516826.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 188,
"cds_start": 278,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518524.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Lys122Arg",
"transcript": "XM_011518525.4",
"protein_id": "XP_011516827.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 184,
"cds_start": 365,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518525.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg",
"transcript": "XM_017014622.3",
"protein_id": "XP_016870111.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 181,
"cds_start": 356,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014622.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.227A>G",
"hgvs_p": "p.Lys76Arg",
"transcript": "XM_006717055.4",
"protein_id": "XP_006717118.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 171,
"cds_start": 227,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717055.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.251-947A>G",
"hgvs_p": null,
"transcript": "ENST00000857347.1",
"protein_id": "ENSP00000527406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.197-947A>G",
"hgvs_p": null,
"transcript": "ENST00000947041.1",
"protein_id": "ENSP00000617100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.82-4139A>G",
"hgvs_p": null,
"transcript": "ENST00000934389.1",
"protein_id": "ENSP00000604448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"hgvs_c": "c.82-4139A>G",
"hgvs_p": null,
"transcript": "ENST00000947040.1",
"protein_id": "ENSP00000617099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947040.1"
}
],
"gene_symbol": "OSTF1",
"gene_hgnc_id": 8510,
"dbsnp": "rs201675512",
"frequency_reference_population": 0.00005325104,
"hom_count_reference_population": 0,
"allele_count_reference_population": 84,
"gnomad_exomes_af": 0.0000547334,
"gnomad_genomes_af": 0.0000393846,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07635834813117981,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.0801,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.839,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.000214007633347834,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_012383.5",
"gene_symbol": "OSTF1",
"hgnc_id": 8510,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Lys119Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}