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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: 16-70512280-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70512280&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70512280,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000323786.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Glu233*",
"transcript": "NM_015386.3",
"protein_id": "NP_056201.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 789,
"cds_start": 697,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": "ENST00000323786.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Glu233*",
"transcript": "ENST00000323786.10",
"protein_id": "ENSP00000315775.5",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 789,
"cds_start": 697,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": "NM_015386.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Glu233*",
"transcript": "ENST00000393612.8",
"protein_id": "ENSP00000377236.5",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 768,
"cds_start": 697,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 708,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.610G>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": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.604G>T",
"hgvs_p": "p.Glu202*",
"transcript": "ENST00000703109.1",
"protein_id": "ENSP00000515176.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 800,
"cds_start": 604,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.685G>T",
"hgvs_p": "p.Glu229*",
"transcript": "NM_001195139.2",
"protein_id": "NP_001182068.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 764,
"cds_start": 685,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.685G>T",
"hgvs_p": "p.Glu229*",
"transcript": "ENST00000674443.1",
"protein_id": "ENSP00000501405.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 764,
"cds_start": 685,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Glu91*",
"transcript": "NM_001365426.1",
"protein_id": "NP_001352355.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 647,
"cds_start": 271,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "c.558G>T",
"hgvs_p": "p.Met186Ile",
"transcript": "ENST00000564653.6",
"protein_id": "ENSP00000454573.2",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 189,
"cds_start": 558,
"cds_end": null,
"cds_length": 570,
"cdna_start": 577,
"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": 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.685G>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": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*773G>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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.694G>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": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*477G>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": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.646G>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": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*626G>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": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.685G>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": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*262G>T",
"hgvs_p": null,
"transcript": "ENST00000703110.1",
"protein_id": "ENSP00000515177.1",
"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": 2450,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.704G>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": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.704G>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": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*110G>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": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.685G>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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.553G>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,
"cdna_end": null,
"cdna_length": 1524,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.708G>T",
"hgvs_p": null,
"transcript": "NR_158212.1",
"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,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.22,
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{
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"PM2",
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],
"clinvar_disease": "COG4-congenital disorder of glycosylation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "COG4-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}