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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: 14-70326416-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=70326416&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 70326416,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001202547.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Asn80Asp",
"transcript": "NM_016468.7",
"protein_id": "NP_057552.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 106,
"cds_start": 238,
"cds_end": null,
"cds_length": 321,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": "ENST00000389912.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016468.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Asn80Asp",
"transcript": "ENST00000389912.7",
"protein_id": "ENSP00000374562.5",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 106,
"cds_start": 238,
"cds_end": null,
"cds_length": 321,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": "NM_016468.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389912.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"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.466A>G",
"hgvs_p": "p.Asn156Asp",
"transcript": "ENST00000621525.4",
"protein_id": "ENSP00000482133.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 182,
"cds_start": 466,
"cds_end": null,
"cds_length": 549,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621525.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"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.493A>G",
"hgvs_p": "p.Asn165Asp",
"transcript": "NM_001202547.2",
"protein_id": "NP_001189476.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 191,
"cds_start": 493,
"cds_end": null,
"cds_length": 576,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202547.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"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.466A>G",
"hgvs_p": "p.Asn156Asp",
"transcript": "NM_001202548.2",
"protein_id": "NP_001189477.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 182,
"cds_start": 466,
"cds_end": null,
"cds_length": 549,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202548.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"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.394A>G",
"hgvs_p": "p.Asn132Asp",
"transcript": "NM_001202549.2",
"protein_id": "NP_001189478.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 394,
"cds_end": null,
"cds_length": 477,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202549.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"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.394A>G",
"hgvs_p": "p.Asn132Asp",
"transcript": "ENST00000617124.4",
"protein_id": "ENSP00000484161.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 151,
"cds_start": 394,
"cds_end": null,
"cds_length": 458,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617124.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Asn119Asp",
"transcript": "ENST00000854462.1",
"protein_id": "ENSP00000524521.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 145,
"cds_start": 355,
"cds_end": null,
"cds_length": 438,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854462.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Asn106Asp",
"transcript": "ENST00000854465.1",
"protein_id": "ENSP00000524524.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 132,
"cds_start": 316,
"cds_end": null,
"cds_length": 399,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854465.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Asn95Asp",
"transcript": "ENST00000854463.1",
"protein_id": "ENSP00000524522.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 121,
"cds_start": 283,
"cds_end": null,
"cds_length": 366,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854463.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Asn82Asp",
"transcript": "ENST00000854466.1",
"protein_id": "ENSP00000524525.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 108,
"cds_start": 244,
"cds_end": null,
"cds_length": 327,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854466.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Asn59Asp",
"transcript": "ENST00000940438.1",
"protein_id": "ENSP00000610497.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 85,
"cds_start": 175,
"cds_end": null,
"cds_length": 258,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940438.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.166A>G",
"hgvs_p": "p.Asn56Asp",
"transcript": "NM_001204090.2",
"protein_id": "NP_001191019.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 82,
"cds_start": 166,
"cds_end": null,
"cds_length": 249,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204090.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Asn35Asp",
"transcript": "ENST00000854464.1",
"protein_id": "ENSP00000524523.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 61,
"cds_start": 103,
"cds_end": null,
"cds_length": 186,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854464.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "c.97A>G",
"hgvs_p": "p.Asn33Asp",
"transcript": "ENST00000555276.5",
"protein_id": "ENSP00000480746.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 52,
"cds_start": 97,
"cds_end": null,
"cds_length": 161,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555276.5"
},
{
"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": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "n.99A>G",
"hgvs_p": null,
"transcript": "ENST00000554366.5",
"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": 447,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554366.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "n.250A>G",
"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": 384,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX16",
"gene_hgnc_id": 20213,
"hgvs_c": "n.279A>G",
"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": 627,
"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": 6,
"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.514A>G",
"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": 580,
"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.713-16256T>C",
"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": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000655620.1"
}
],
"gene_symbol": "SYNJ2BP-COX16",
"gene_hgnc_id": 48350,
"dbsnp": "rs1886077590",
"frequency_reference_population": 0.0000034686236,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000346862,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4522066116333008,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.7501,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.117,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001202547.2",
"gene_symbol": "SYNJ2BP-COX16",
"hgnc_id": 48350,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Asn165Asp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016468.7",
"gene_symbol": "COX16",
"hgnc_id": 20213,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Asn80Asp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000655620.1",
"gene_symbol": "ENSG00000259033",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.713-16256T>C",
"hgvs_p": null
}
],
"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
}