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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: 9-114404058-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114404058&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114404058,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000362057.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2256G>T",
"hgvs_p": "p.Gln752His",
"transcript": "NM_015404.4",
"protein_id": "NP_056219.3",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 907,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000362057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2256G>T",
"hgvs_p": "p.Gln752His",
"transcript": "ENST00000362057.4",
"protein_id": "ENSP00000354623.3",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 907,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_015404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1107G>T",
"hgvs_p": "p.Gln369His",
"transcript": "ENST00000265134.10",
"protein_id": "ENSP00000265134.6",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 524,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2253G>T",
"hgvs_p": "p.Gln751His",
"transcript": "NM_001173425.2",
"protein_id": "NP_001166896.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 906,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2925,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Gln682His",
"transcript": "ENST00000674036.9",
"protein_id": "ENSP00000501297.5",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 837,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1203G>T",
"hgvs_p": "p.Gln401His",
"transcript": "NM_001346890.1",
"protein_id": "NP_001333819.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 556,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1107G>T",
"hgvs_p": "p.Gln369His",
"transcript": "NM_001083885.3",
"protein_id": "NP_001077354.2",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 524,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.600G>T",
"hgvs_p": "p.Gln200His",
"transcript": "ENST00000699485.1",
"protein_id": "ENSP00000514396.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 355,
"cds_start": 600,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2289G>T",
"hgvs_p": "p.Gln763His",
"transcript": "XM_011518485.2",
"protein_id": "XP_011516787.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 918,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2286G>T",
"hgvs_p": "p.Gln762His",
"transcript": "XM_011518486.3",
"protein_id": "XP_011516788.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 917,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2958,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2256G>T",
"hgvs_p": "p.Gln752His",
"transcript": "XM_047423161.1",
"protein_id": "XP_047279117.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 907,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2253G>T",
"hgvs_p": "p.Gln751His",
"transcript": "XM_047423163.1",
"protein_id": "XP_047279119.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 906,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2163G>T",
"hgvs_p": "p.Gln721His",
"transcript": "XM_011518487.3",
"protein_id": "XP_011516789.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 876,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2130G>T",
"hgvs_p": "p.Gln710His",
"transcript": "XM_047423164.1",
"protein_id": "XP_047279120.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 865,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2127G>T",
"hgvs_p": "p.Gln709His",
"transcript": "XM_047423165.1",
"protein_id": "XP_047279121.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 864,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2656,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Gln682His",
"transcript": "XM_047423166.1",
"protein_id": "XP_047279122.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 837,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2043G>T",
"hgvs_p": "p.Gln681His",
"transcript": "XM_047423167.1",
"protein_id": "XP_047279123.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 836,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1920G>T",
"hgvs_p": "p.Gln640His",
"transcript": "XM_047423168.1",
"protein_id": "XP_047279124.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 795,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1917G>T",
"hgvs_p": "p.Gln639His",
"transcript": "XM_047423169.1",
"protein_id": "XP_047279125.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 794,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.2137G>T",
"hgvs_p": null,
"transcript": "ENST00000674048.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"dbsnp": "rs6478078",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6962184309959412,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.6099,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.452,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": "ENST00000362057.4",
"gene_symbol": "WHRN",
"hgnc_id": 16361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2256G>T",
"hgvs_p": "p.Gln752His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}