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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: 16-29963437-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29963437&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29963437,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001083613.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_001083613.2",
"protein_id": "NP_001077082.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 946,
"mane_select": "ENST00000279396.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000279396.11",
"protein_id": "ENSP00000279396.6",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 946,
"mane_select": "NM_001083613.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000414689.6",
"protein_id": "ENSP00000388485.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000566848.5",
"protein_id": "ENSP00000457492.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_001369688.1",
"protein_id": "NP_001356617.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_194280.4",
"protein_id": "NP_919256.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000561899.6",
"protein_id": "ENSP00000456960.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_001369689.1",
"protein_id": "NP_001356618.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 239,
"cds_start": 203,
"cds_end": null,
"cds_length": 720,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000575829.6",
"protein_id": "ENSP00000459732.2",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 212,
"cds_start": 203,
"cds_end": null,
"cds_length": 641,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_001369690.1",
"protein_id": "NP_001356619.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 196,
"cds_start": 203,
"cds_end": null,
"cds_length": 591,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Thr13Ile",
"transcript": "ENST00000569445.2",
"protein_id": "ENSP00000461124.1",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 169,
"cds_start": 38,
"cds_end": null,
"cds_length": 510,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000569481.1",
"protein_id": "ENSP00000454443.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 98,
"cds_start": 20,
"cds_end": null,
"cds_length": 297,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "XM_005255123.2",
"protein_id": "XP_005255180.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "XM_047433622.1",
"protein_id": "XP_047289578.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 240,
"cds_start": 203,
"cds_end": null,
"cds_length": 723,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000570255.6",
"protein_id": "ENSP00000459813.2",
"transcript_support_level": 2,
"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": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.291C>T",
"hgvs_p": null,
"transcript": "NR_161465.1",
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "NR_161466.1",
"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": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.294C>T",
"hgvs_p": null,
"transcript": "XR_007064853.1",
"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": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.394C>T",
"hgvs_p": null,
"transcript": "XR_007064854.1",
"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": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"dbsnp": "rs773402596",
"frequency_reference_population": 0.0000013681107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3521672785282135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.1764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.516,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001083613.2",
"gene_symbol": "TMEM219",
"hgnc_id": 25201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}