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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: 9-114403319-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114403319&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114403319,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000362057.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Thr813Thr",
"transcript": "NM_015404.4",
"protein_id": "NP_056219.3",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 907,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000362057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Thr813Thr",
"transcript": "ENST00000362057.4",
"protein_id": "ENSP00000354623.3",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 907,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_015404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Thr430Thr",
"transcript": "ENST00000265134.10",
"protein_id": "ENSP00000265134.6",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 524,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Thr812Thr",
"transcript": "NM_001173425.2",
"protein_id": "NP_001166896.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 906,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3108,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2229G>A",
"hgvs_p": "p.Thr743Thr",
"transcript": "ENST00000674036.9",
"protein_id": "ENSP00000501297.5",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 837,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1386G>A",
"hgvs_p": "p.Thr462Thr",
"transcript": "NM_001346890.1",
"protein_id": "NP_001333819.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 556,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Thr430Thr",
"transcript": "NM_001083885.3",
"protein_id": "NP_001077354.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 524,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "ENST00000699485.1",
"protein_id": "ENSP00000514396.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 355,
"cds_start": 783,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2472G>A",
"hgvs_p": "p.Thr824Thr",
"transcript": "XM_011518485.2",
"protein_id": "XP_011516787.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Thr823Thr",
"transcript": "XM_011518486.3",
"protein_id": "XP_011516788.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 917,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Thr813Thr",
"transcript": "XM_047423161.1",
"protein_id": "XP_047279117.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 907,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Thr812Thr",
"transcript": "XM_047423163.1",
"protein_id": "XP_047279119.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 906,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2965,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2346G>A",
"hgvs_p": "p.Thr782Thr",
"transcript": "XM_011518487.3",
"protein_id": "XP_011516789.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 876,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2313G>A",
"hgvs_p": "p.Thr771Thr",
"transcript": "XM_047423164.1",
"protein_id": "XP_047279120.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 865,
"cds_start": 2313,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2310G>A",
"hgvs_p": "p.Thr770Thr",
"transcript": "XM_047423165.1",
"protein_id": "XP_047279121.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 864,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2229G>A",
"hgvs_p": "p.Thr743Thr",
"transcript": "XM_047423166.1",
"protein_id": "XP_047279122.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 837,
"cds_start": 2229,
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"cdna_start": 2758,
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"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2226G>A",
"hgvs_p": "p.Thr742Thr",
"transcript": "XM_047423167.1",
"protein_id": "XP_047279123.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 836,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2103G>A",
"hgvs_p": "p.Thr701Thr",
"transcript": "XM_047423168.1",
"protein_id": "XP_047279124.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 795,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2100G>A",
"hgvs_p": "p.Thr700Thr",
"transcript": "XM_047423169.1",
"protein_id": "XP_047279125.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 794,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2772,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.2320G>A",
"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": "rs61743618",
"frequency_reference_population": 0.00093306124,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1506,
"gnomad_exomes_af": 0.000509646,
"gnomad_genomes_af": 0.00499862,
"gnomad_exomes_ac": 745,
"gnomad_genomes_ac": 761,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.288,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000362057.4",
"gene_symbol": "WHRN",
"hgnc_id": 16361,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2439G>A",
"hgvs_p": "p.Thr813Thr"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 31,Usher syndrome type 2D,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:4",
"phenotype_combined": "not specified|Usher syndrome type 2D|Autosomal recessive nonsyndromic hearing loss 31|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}