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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: 16-70514394-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70514394&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70514394,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000323786.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "NM_015386.3",
"protein_id": "NP_056201.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 789,
"cds_start": 485,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": "ENST00000323786.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "ENST00000323786.10",
"protein_id": "ENSP00000315775.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 789,
"cds_start": 485,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": "NM_015386.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "ENST00000393612.8",
"protein_id": "ENSP00000377236.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 768,
"cds_start": 485,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2756,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.398C>T",
"hgvs_p": null,
"transcript": "ENST00000530314.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Ile",
"transcript": "ENST00000703109.1",
"protein_id": "ENSP00000515176.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 800,
"cds_start": 392,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Thr158Ile",
"transcript": "NM_001195139.2",
"protein_id": "NP_001182068.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 764,
"cds_start": 473,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Thr158Ile",
"transcript": "ENST00000674443.1",
"protein_id": "ENSP00000501405.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 764,
"cds_start": 473,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Thr20Ile",
"transcript": "NM_001365426.1",
"protein_id": "NP_001352355.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 647,
"cds_start": 59,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Thr158Ile",
"transcript": "ENST00000564653.6",
"protein_id": "ENSP00000454573.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 189,
"cds_start": 473,
"cds_end": null,
"cds_length": 570,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 590,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.473C>T",
"hgvs_p": null,
"transcript": "ENST00000482252.5",
"protein_id": "ENSP00000432802.1",
"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": 2953,
"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": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*214C>T",
"hgvs_p": null,
"transcript": "ENST00000524584.1",
"protein_id": "ENSP00000463732.1",
"transcript_support_level": 4,
"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": 550,
"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": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*67C>T",
"hgvs_p": null,
"transcript": "ENST00000530160.2",
"protein_id": "ENSP00000434160.2",
"transcript_support_level": 4,
"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": 554,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*561C>T",
"hgvs_p": null,
"transcript": "ENST00000534772.2",
"protein_id": "ENSP00000461912.2",
"transcript_support_level": 3,
"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": 3031,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.482C>T",
"hgvs_p": null,
"transcript": "ENST00000562200.5",
"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": 885,
"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": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*265C>T",
"hgvs_p": null,
"transcript": "ENST00000564415.6",
"protein_id": "ENSP00000456653.2",
"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": 3000,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.434C>T",
"hgvs_p": null,
"transcript": "ENST00000703106.1",
"protein_id": "ENSP00000515173.1",
"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": 2844,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*414C>T",
"hgvs_p": null,
"transcript": "ENST00000703107.1",
"protein_id": "ENSP00000515174.1",
"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": 2939,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.473C>T",
"hgvs_p": null,
"transcript": "ENST00000703108.1",
"protein_id": "ENSP00000515175.1",
"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": 2755,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.492C>T",
"hgvs_p": null,
"transcript": "ENST00000703111.1",
"protein_id": null,
"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": 3048,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.492C>T",
"hgvs_p": null,
"transcript": "ENST00000703112.1",
"protein_id": null,
"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": 3576,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.473C>T",
"hgvs_p": null,
"transcript": "ENST00000703113.1",
"protein_id": "ENSP00000515178.1",
"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": 2511,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.473C>T",
"hgvs_p": null,
"transcript": "ENST00000703114.1",
"protein_id": "ENSP00000515179.1",
"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": 2551,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.341C>T",
"hgvs_p": null,
"transcript": "ENST00000703115.1",
"protein_id": "ENSP00000515180.1",
"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,
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}
],
"gene_symbol": "COG4",
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"dbsnp": "rs3931036",
"frequency_reference_population": 0.9408874,
"hom_count_reference_population": 714932,
"allele_count_reference_population": 1518581,
"gnomad_exomes_af": 0.939507,
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"gnomad_exomes_ac": 1373357,
"gnomad_genomes_ac": 145224,
"gnomad_exomes_homalt": 645567,
"gnomad_genomes_homalt": 69365,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.82439270147006e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.02,
"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,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000323786.10",
"gene_symbol": "COG4",
"hgnc_id": 18620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile"
}
],
"clinvar_disease": " Saul-Wilson type,COG4-congenital disorder of glycosylation,Microcephalic osteodysplastic dysplasia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|COG4-congenital disorder of glycosylation|Microcephalic osteodysplastic dysplasia, Saul-Wilson type|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}