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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: 2-97758909-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=97758909&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 97758909,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015348.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5351C>T",
"hgvs_p": "p.Pro1784Leu",
"transcript": "NM_015348.2",
"protein_id": "NP_056163.1",
"transcript_support_level": null,
"aa_start": 1784,
"aa_end": null,
"aa_length": 1883,
"cds_start": 5351,
"cds_end": null,
"cds_length": 5652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000186436.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015348.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5351C>T",
"hgvs_p": "p.Pro1784Leu",
"transcript": "ENST00000186436.10",
"protein_id": "ENSP00000186436.5",
"transcript_support_level": 5,
"aa_start": 1784,
"aa_end": null,
"aa_length": 1883,
"cds_start": 5351,
"cds_end": null,
"cds_length": 5652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000186436.10"
},
{
"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": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "n.6409C>T",
"hgvs_p": null,
"transcript": "ENST00000485245.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485245.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5402C>T",
"hgvs_p": "p.Pro1801Leu",
"transcript": "ENST00000962018.1",
"protein_id": "ENSP00000632077.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 1900,
"cds_start": 5402,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962018.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5348C>T",
"hgvs_p": "p.Pro1783Leu",
"transcript": "ENST00000913347.1",
"protein_id": "ENSP00000583406.1",
"transcript_support_level": null,
"aa_start": 1783,
"aa_end": null,
"aa_length": 1882,
"cds_start": 5348,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913347.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5234C>T",
"hgvs_p": "p.Pro1745Leu",
"transcript": "ENST00000913349.1",
"protein_id": "ENSP00000583408.1",
"transcript_support_level": null,
"aa_start": 1745,
"aa_end": null,
"aa_length": 1844,
"cds_start": 5234,
"cds_end": null,
"cds_length": 5535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913349.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5201C>T",
"hgvs_p": "p.Pro1734Leu",
"transcript": "ENST00000913348.1",
"protein_id": "ENSP00000583407.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1833,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913348.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5621C>T",
"hgvs_p": "p.Pro1874Leu",
"transcript": "XM_047443842.1",
"protein_id": "XP_047299798.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1973,
"cds_start": 5621,
"cds_end": null,
"cds_length": 5922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443842.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5402C>T",
"hgvs_p": "p.Pro1801Leu",
"transcript": "XM_005263909.2",
"protein_id": "XP_005263966.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 1900,
"cds_start": 5402,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263909.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5399C>T",
"hgvs_p": "p.Pro1800Leu",
"transcript": "XM_005263910.2",
"protein_id": "XP_005263967.1",
"transcript_support_level": null,
"aa_start": 1800,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5399,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263910.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5348C>T",
"hgvs_p": "p.Pro1783Leu",
"transcript": "XM_047443843.1",
"protein_id": "XP_047299799.1",
"transcript_support_level": null,
"aa_start": 1783,
"aa_end": null,
"aa_length": 1882,
"cds_start": 5348,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443843.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5216C>T",
"hgvs_p": "p.Pro1739Leu",
"transcript": "XM_011510869.2",
"protein_id": "XP_011509171.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1838,
"cds_start": 5216,
"cds_end": null,
"cds_length": 5517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510869.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5165C>T",
"hgvs_p": "p.Pro1722Leu",
"transcript": "XM_047443844.1",
"protein_id": "XP_047299800.1",
"transcript_support_level": null,
"aa_start": 1722,
"aa_end": null,
"aa_length": 1821,
"cds_start": 5165,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443844.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "c.5012C>T",
"hgvs_p": "p.Pro1671Leu",
"transcript": "XM_047443845.1",
"protein_id": "XP_047299801.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1770,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"hgvs_c": "n.589C>T",
"hgvs_p": null,
"transcript": "ENST00000469447.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469447.1"
}
],
"gene_symbol": "TMEM131",
"gene_hgnc_id": 30366,
"dbsnp": "rs781057194",
"frequency_reference_population": 0.000018609106,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000198654,
"gnomad_genomes_af": 0.00000656633,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2318735420703888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.1608,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.826,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015348.2",
"gene_symbol": "TMEM131",
"hgnc_id": 30366,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5351C>T",
"hgvs_p": "p.Pro1784Leu"
}
],
"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
}