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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: 7-98217712-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=98217712&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 98217712,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015395.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "NM_015395.3",
"protein_id": "NP_056210.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3645,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": "ENST00000447648.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015395.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "ENST00000447648.7",
"protein_id": "ENSP00000404923.2",
"transcript_support_level": 1,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3645,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": "NM_015395.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447648.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "n.2562G>A",
"hgvs_p": null,
"transcript": "ENST00000490842.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490842.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "ENST00000871695.1",
"protein_id": "ENSP00000541754.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871695.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "ENST00000871697.1",
"protein_id": "ENSP00000541756.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3874,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871697.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "ENST00000962625.1",
"protein_id": "ENSP00000632684.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962625.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "ENST00000962626.1",
"protein_id": "ENSP00000632685.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962626.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "ENST00000962629.1",
"protein_id": "ENSP00000632688.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3586,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962629.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3331G>A",
"hgvs_p": "p.Gly1111Ser",
"transcript": "ENST00000962628.1",
"protein_id": "ENSP00000632687.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962628.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3301G>A",
"hgvs_p": "p.Gly1101Ser",
"transcript": "ENST00000871696.1",
"protein_id": "ENSP00000541755.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3301,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871696.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3262G>A",
"hgvs_p": "p.Gly1088Ser",
"transcript": "ENST00000871694.1",
"protein_id": "ENSP00000541753.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871694.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3262G>A",
"hgvs_p": "p.Gly1088Ser",
"transcript": "ENST00000962624.1",
"protein_id": "ENSP00000632683.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962624.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser",
"transcript": "XM_005250253.5",
"protein_id": "XP_005250310.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3364,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250253.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3262G>A",
"hgvs_p": "p.Gly1088Ser",
"transcript": "XM_017011937.2",
"protein_id": "XP_016867426.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3543,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011937.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3262G>A",
"hgvs_p": "p.Gly1088Ser",
"transcript": "XM_047420119.1",
"protein_id": "XP_047276075.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3518,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "c.3265-209G>A",
"hgvs_p": null,
"transcript": "ENST00000962627.1",
"protein_id": "ENSP00000632686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1125,
"cds_start": null,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962627.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "n.876G>A",
"hgvs_p": null,
"transcript": "ENST00000463402.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463402.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "n.127G>A",
"hgvs_p": null,
"transcript": "ENST00000485716.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"hgvs_c": "n.*31G>A",
"hgvs_p": null,
"transcript": "ENST00000462511.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462511.5"
}
],
"gene_symbol": "TECPR1",
"gene_hgnc_id": 22214,
"dbsnp": "rs773085229",
"frequency_reference_population": 0.0000516862,
"hom_count_reference_population": 1,
"allele_count_reference_population": 80,
"gnomad_exomes_af": 0.0000551746,
"gnomad_genomes_af": 0.0000197068,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1220945417881012,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0818,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.617,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015395.3",
"gene_symbol": "TECPR1",
"hgnc_id": 22214,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Gly1122Ser"
}
],
"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
}