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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: 2-96254889-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96254889&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96254889,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000258439.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"transcript": "NM_017849.4",
"protein_id": "NP_060319.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 238,
"cds_start": 353,
"cds_end": null,
"cds_length": 717,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 6271,
"mane_select": "ENST00000258439.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"transcript": "ENST00000258439.8",
"protein_id": "ENSP00000258439.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 238,
"cds_start": 353,
"cds_end": null,
"cds_length": 717,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 6271,
"mane_select": "NM_017849.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"transcript": "ENST00000432959.2",
"protein_id": "ENSP00000416660.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 238,
"cds_start": 353,
"cds_end": null,
"cds_length": 717,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"transcript": "NM_001193304.3",
"protein_id": "NP_001180233.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 238,
"cds_start": 353,
"cds_end": null,
"cds_length": 717,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 6248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "NM_001407282.1",
"protein_id": "NP_001394211.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 154,
"cds_start": 101,
"cds_end": null,
"cds_length": 465,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "NM_001407283.1",
"protein_id": "NP_001394212.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 154,
"cds_start": 101,
"cds_end": null,
"cds_length": 465,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "ENST00000435268.2",
"protein_id": "ENSP00000411810.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 154,
"cds_start": 101,
"cds_end": null,
"cds_length": 465,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "ENST00000713752.1",
"protein_id": "ENSP00000519053.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 154,
"cds_start": 101,
"cds_end": null,
"cds_length": 465,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "ENST00000713753.1",
"protein_id": "ENSP00000519054.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 154,
"cds_start": 101,
"cds_end": null,
"cds_length": 465,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 4123,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "n.*33C>T",
"hgvs_p": null,
"transcript": "ENST00000713754.1",
"protein_id": "ENSP00000519055.1",
"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": 3825,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "n.*97C>T",
"hgvs_p": null,
"transcript": "ENST00000713755.1",
"protein_id": "ENSP00000519056.1",
"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": 3225,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "n.*121C>T",
"hgvs_p": null,
"transcript": "ENST00000713756.1",
"protein_id": "ENSP00000519057.1",
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "n.*33C>T",
"hgvs_p": null,
"transcript": "ENST00000713754.1",
"protein_id": "ENSP00000519055.1",
"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": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "n.*97C>T",
"hgvs_p": null,
"transcript": "ENST00000713755.1",
"protein_id": "ENSP00000519056.1",
"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": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"hgvs_c": "n.*121C>T",
"hgvs_p": null,
"transcript": "ENST00000713756.1",
"protein_id": "ENSP00000519057.1",
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM127",
"gene_hgnc_id": 26038,
"dbsnp": "rs769359648",
"frequency_reference_population": 0.000008674317,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889302,
"gnomad_genomes_af": 0.00000657289,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8555409908294678,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.871,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.498,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000258439.8",
"gene_symbol": "TMEM127",
"hgnc_id": 26038,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma,Pheochromocytoma,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|not provided|Pheochromocytoma",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}