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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: 1-169596062-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169596062&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169596062,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003005.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr",
"transcript": "NM_003005.4",
"protein_id": "NP_002996.2",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 830,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "ENST00000263686.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr",
"transcript": "ENST00000263686.11",
"protein_id": "ENSP00000263686.5",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 830,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "NM_003005.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1961G>A",
"hgvs_p": "p.Cys654Tyr",
"transcript": "ENST00000426706.6",
"protein_id": "ENSP00000391694.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 789,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Cys593Tyr",
"transcript": "ENST00000367786.6",
"protein_id": "ENSP00000356760.1",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 768,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Cys593Tyr",
"transcript": "ENST00000367788.6",
"protein_id": "ENSP00000356762.1",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 768,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1412G>A",
"hgvs_p": "p.Cys471Tyr",
"transcript": "ENST00000458599.6",
"protein_id": "ENSP00000399368.2",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 646,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr",
"transcript": "XM_005245435.3",
"protein_id": "XP_005245492.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 830,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr",
"transcript": "XM_005245436.5",
"protein_id": "XP_005245493.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 830,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr",
"transcript": "XM_005245438.3",
"protein_id": "XP_005245495.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 790,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr",
"transcript": "XM_005245439.3",
"protein_id": "XP_005245496.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 790,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Cys593Tyr",
"transcript": "XM_005245440.3",
"protein_id": "XP_005245497.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 768,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Cys593Tyr",
"transcript": "XM_047427583.1",
"protein_id": "XP_047283539.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 768,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SELP",
"gene_hgnc_id": 10721,
"dbsnp": "rs146981863",
"frequency_reference_population": 0.000075593285,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000786784,
"gnomad_genomes_af": 0.0000459758,
"gnomad_exomes_ac": 115,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5604395866394043,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.7119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.216,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003005.4",
"gene_symbol": "SELP",
"hgnc_id": 10721,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Cys655Tyr"
}
],
"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
}