← Back to variant description
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: 14-70329183-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=70329183&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 70329183,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001202547.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.195G>T",
"hgvs_p": "p.Ser65Ser",
"transcript": "NM_016468.7",
"protein_id": "NP_057552.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 106,
"cds_start": 195,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389912.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016468.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.195G>T",
"hgvs_p": "p.Ser65Ser",
"transcript": "ENST00000389912.7",
"protein_id": "ENSP00000374562.5",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 106,
"cds_start": 195,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016468.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389912.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000621525.4",
"protein_id": "ENSP00000482133.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 182,
"cds_start": 423,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621525.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"hgvs_c": "c.450G>T",
"hgvs_p": "p.Ser150Ser",
"transcript": "NM_001202547.2",
"protein_id": "NP_001189476.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 191,
"cds_start": 450,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202547.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001202548.2",
"protein_id": "NP_001189477.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 182,
"cds_start": 423,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202548.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"hgvs_c": "c.351G>T",
"hgvs_p": "p.Ser117Ser",
"transcript": "NM_001202549.2",
"protein_id": "NP_001189478.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 158,
"cds_start": 351,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202549.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"hgvs_c": "c.351G>T",
"hgvs_p": "p.Ser117Ser",
"transcript": "ENST00000617124.4",
"protein_id": "ENSP00000484161.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 151,
"cds_start": 351,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617124.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.312G>T",
"hgvs_p": "p.Ser104Ser",
"transcript": "ENST00000854462.1",
"protein_id": "ENSP00000524521.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 145,
"cds_start": 312,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854462.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.273G>T",
"hgvs_p": "p.Ser91Ser",
"transcript": "ENST00000854465.1",
"protein_id": "ENSP00000524524.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 132,
"cds_start": 273,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854465.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.240G>T",
"hgvs_p": "p.Ser80Ser",
"transcript": "ENST00000854463.1",
"protein_id": "ENSP00000524522.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 121,
"cds_start": 240,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854463.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Ser67Ser",
"transcript": "ENST00000854466.1",
"protein_id": "ENSP00000524525.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 108,
"cds_start": 201,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854466.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Ser41Ser",
"transcript": "NM_001204090.2",
"protein_id": "NP_001191019.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 82,
"cds_start": 123,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204090.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Ser18Ser",
"transcript": "ENST00000555276.5",
"protein_id": "ENSP00000480746.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 52,
"cds_start": 54,
"cds_end": null,
"cds_length": 161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555276.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.142-2734G>T",
"hgvs_p": null,
"transcript": "ENST00000940438.1",
"protein_id": "ENSP00000610497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940438.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.70-2734G>T",
"hgvs_p": null,
"transcript": "ENST00000854464.1",
"protein_id": "ENSP00000524523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854464.1"
},
{
"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": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "n.207G>T",
"hgvs_p": null,
"transcript": "ENST00000555601.1",
"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": "pseudogene",
"feature": "ENST00000555601.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "n.236G>T",
"hgvs_p": null,
"transcript": "ENST00000557612.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"hgvs_c": "n.471G>T",
"hgvs_p": null,
"transcript": "ENST00000617196.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000617196.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259033",
"gene_hgnc_id": null,
"hgvs_c": "n.713-13489C>A",
"hgvs_p": null,
"transcript": "ENST00000655620.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000655620.1"
}
],
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"dbsnp": "rs372378281",
"frequency_reference_population": 6.954403e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9544e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.547,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001202547.2",
"gene_symbol": "SYNJ2BP-COX16",
"hgnc_id": 48350,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.450G>T",
"hgvs_p": "p.Ser150Ser"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_016468.7",
"gene_symbol": "COX16",
"hgnc_id": 20213,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.195G>T",
"hgvs_p": "p.Ser65Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000655620.1",
"gene_symbol": "ENSG00000259033",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.713-13489C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}