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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: 14-77465618-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77465618&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AHSA1",
"hgnc_id": 1189,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_012111.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1061,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2877006530761719,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1017,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_012111.3",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216479.8",
"protein_coding": true,
"protein_id": "NP_036243.1",
"strand": true,
"transcript": "NM_012111.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1017,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000216479.8",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012111.3",
"protein_coding": true,
"protein_id": "ENSP00000216479.3",
"strand": true,
"transcript": "ENST00000216479.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1110,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855622.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525681.1",
"strand": true,
"transcript": "ENST00000855622.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 358,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1077,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000920448.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Thr234Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590507.1",
"strand": true,
"transcript": "ENST00000920448.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1017,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962103.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632162.1",
"strand": true,
"transcript": "ENST00000962103.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 329,
"aa_ref": "T",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 723,
"cds_end": null,
"cds_length": 990,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855624.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Thr205Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525683.1",
"strand": true,
"transcript": "ENST00000855624.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 304,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1218,
"cdna_start": 744,
"cds_end": null,
"cds_length": 915,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855625.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525684.1",
"strand": true,
"transcript": "ENST00000855625.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 799,
"cds_end": null,
"cds_length": 867,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000535854.6",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440108.2",
"strand": true,
"transcript": "ENST00000535854.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 593,
"cds_end": null,
"cds_length": 816,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855620.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525679.1",
"strand": true,
"transcript": "ENST00000855620.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 215,
"aa_ref": "T",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": 477,
"cds_end": null,
"cds_length": 648,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000553374.5",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Thr159Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451475.1",
"strand": true,
"transcript": "ENST00000553374.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 203,
"aa_ref": "T",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 677,
"cds_end": null,
"cds_length": 612,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321441.2",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Thr79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308370.1",
"strand": true,
"transcript": "NM_001321441.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 202,
"aa_ref": "T",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1048,
"cdna_start": 674,
"cds_end": null,
"cds_length": 610,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555133.5",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Thr79Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451569.1",
"strand": true,
"transcript": "ENST00000555133.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": null,
"cds_end": null,
"cds_length": 888,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855621.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.561+932C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525680.1",
"strand": true,
"transcript": "ENST00000855621.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": null,
"cds_end": null,
"cds_length": 681,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855623.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.355-2465C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525682.1",
"strand": true,
"transcript": "ENST00000855623.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 621,
"cdna_start": null,
"cds_end": null,
"cds_length": 399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555729.3",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "c.226+2859C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452127.1",
"strand": true,
"transcript": "ENST00000555729.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000555473.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "n.184C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555473.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000556369.1",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "n.44C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450890.1",
"strand": true,
"transcript": "ENST00000556369.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555457.5",
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"hgvs_c": "n.146-2465C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555457.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs777466895",
"effect": "missense_variant",
"frequency_reference_population": 0.0000012392356,
"gene_hgnc_id": 1189,
"gene_symbol": "AHSA1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84152e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656883,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.532,
"pos": 77465618,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.085,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_012111.3"
}
]
}