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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: 16-69339541-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69339541&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69339541,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000306875.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_032382.5",
"protein_id": "NP_115758.3",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 612,
"cds_start": 12,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": "ENST00000306875.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "ENST00000306875.10",
"protein_id": "ENSP00000305459.6",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 612,
"cds_start": 12,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": "NM_032382.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260371",
"gene_hgnc_id": null,
"hgvs_c": "c.3-2829G>T",
"hgvs_p": null,
"transcript": "ENST00000563634.1",
"protein_id": "ENSP00000454500.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259900",
"gene_hgnc_id": null,
"hgvs_c": "n.466-2829G>T",
"hgvs_p": null,
"transcript": "ENST00000564737.1",
"protein_id": "ENSP00000462747.1",
"transcript_support_level": 5,
"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": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001379261.1",
"protein_id": "NP_001366190.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 659,
"cds_start": 12,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001379262.1",
"protein_id": "NP_001366191.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 638,
"cds_start": 12,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001379263.1",
"protein_id": "NP_001366192.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 625,
"cds_start": 12,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001379264.1",
"protein_id": "NP_001366193.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 612,
"cds_start": 12,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001379265.1",
"protein_id": "NP_001366194.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 579,
"cds_start": 12,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001374871.1",
"protein_id": "NP_001361800.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 534,
"cds_start": 12,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "ENST00000562081.2",
"protein_id": "ENSP00000455954.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 534,
"cds_start": 12,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala",
"transcript": "NM_001379266.1",
"protein_id": "NP_001366195.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 518,
"cds_start": 12,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 4177,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "n.1546C>A",
"hgvs_p": null,
"transcript": "ENST00000563364.3",
"protein_id": null,
"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": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259900",
"gene_hgnc_id": null,
"hgvs_c": "n.317-2829G>T",
"hgvs_p": null,
"transcript": "ENST00000570293.5",
"protein_id": "ENSP00000464417.1",
"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": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "c.-289C>A",
"hgvs_p": null,
"transcript": "NM_016101.5",
"protein_id": "NP_057185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": "ENST00000254940.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "c.-289C>A",
"hgvs_p": null,
"transcript": "ENST00000254940.10",
"protein_id": "ENSP00000254940.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": "NM_016101.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.-49G>T",
"hgvs_p": null,
"transcript": "ENST00000562595.5",
"protein_id": "ENSP00000456705.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": -4,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "c.-289C>A",
"hgvs_p": null,
"transcript": "NM_001199434.2",
"protein_id": "NP_001186363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.-37G>T",
"hgvs_p": null,
"transcript": "ENST00000615447.1",
"protein_id": "ENSP00000484442.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": -4,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "c.-289C>A",
"hgvs_p": null,
"transcript": "ENST00000569637.6",
"protein_id": "ENSP00000463739.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"dbsnp": "rs756986120",
"frequency_reference_population": 0.000002746204,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027462,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.481,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000306875.10",
"gene_symbol": "COG8",
"hgnc_id": 18623,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12G>T",
"hgvs_p": "p.Ala4Ala"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000563634.1",
"gene_symbol": "ENSG00000260371",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3-2829G>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000564737.1",
"gene_symbol": "ENSG00000259900",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.466-2829G>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000563364.3",
"gene_symbol": "NIP7",
"hgnc_id": 24328,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1546C>A",
"hgvs_p": null
}
],
"clinvar_disease": "COG8-congenital disorder of glycosylation",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "COG8-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}