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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: 17-64193700-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64193700&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64193700,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000584379.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "NM_001288732.2",
"protein_id": "NP_001275661.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": "ENST00000584379.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "ENST00000584379.6",
"protein_id": "ENSP00000463001.1",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": "NM_001288732.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "ENST00000258991.7",
"protein_id": "ENSP00000258991.3",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "ENST00000583097.5",
"protein_id": "ENSP00000462665.1",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "NM_018469.5",
"protein_id": "NP_060939.3",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "NM_001288733.2",
"protein_id": "NP_001275662.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Arg179Gly",
"transcript": "ENST00000583501.1",
"protein_id": "ENSP00000462230.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 625,
"cds_start": 535,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_011524998.2",
"protein_id": "XP_011523300.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_011524999.2",
"protein_id": "XP_011523301.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_047436392.1",
"protein_id": "XP_047292348.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_047436393.1",
"protein_id": "XP_047292349.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_011525000.3",
"protein_id": "XP_011523302.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_047436394.1",
"protein_id": "XP_047292350.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_047436395.1",
"protein_id": "XP_047292351.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_047436396.1",
"protein_id": "XP_047292352.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_017024846.3",
"protein_id": "XP_016880335.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly",
"transcript": "XM_047436397.1",
"protein_id": "XP_047292353.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2035,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 5398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TEX2",
"gene_hgnc_id": 30884,
"dbsnp": "rs938294341",
"frequency_reference_population": 0.000011789906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000411148,
"gnomad_genomes_af": 0.0000854038,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.056307315826416016,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.465,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000584379.6",
"gene_symbol": "TEX2",
"hgnc_id": 30884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Arg679Gly"
}
],
"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
}