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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: 16-70514350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70514350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70514350,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_015386.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "NM_015386.3",
"protein_id": "NP_056201.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 789,
"cds_start": 529,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323786.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015386.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000323786.10",
"protein_id": "ENSP00000315775.5",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 789,
"cds_start": 529,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015386.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323786.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000393612.8",
"protein_id": "ENSP00000377236.5",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 768,
"cds_start": 529,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393612.8"
},
{
"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.442C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530314.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000959445.1",
"protein_id": "ENSP00000629504.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 811,
"cds_start": 529,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959445.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000703109.1",
"protein_id": "ENSP00000515176.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 800,
"cds_start": 436,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703109.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000959444.1",
"protein_id": "ENSP00000629503.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 790,
"cds_start": 529,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959444.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.493C>T",
"hgvs_p": "p.Arg165*",
"transcript": "ENST00000912897.1",
"protein_id": "ENSP00000582956.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 777,
"cds_start": 493,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912897.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000876431.1",
"protein_id": "ENSP00000546490.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 772,
"cds_start": 529,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876431.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.517C>T",
"hgvs_p": "p.Arg173*",
"transcript": "NM_001195139.2",
"protein_id": "NP_001182068.2",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 764,
"cds_start": 517,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195139.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.517C>T",
"hgvs_p": "p.Arg173*",
"transcript": "ENST00000674443.1",
"protein_id": "ENSP00000501405.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 764,
"cds_start": 517,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674443.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000876432.1",
"protein_id": "ENSP00000546491.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 751,
"cds_start": 529,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876432.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000876430.1",
"protein_id": "ENSP00000546489.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 746,
"cds_start": 529,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876430.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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": "c.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000912896.1",
"protein_id": "ENSP00000582955.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 678,
"cds_start": 529,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912896.1"
},
{
"aa_ref": "R",
"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.103C>T",
"hgvs_p": "p.Arg35*",
"transcript": "NM_001365426.1",
"protein_id": "NP_001352355.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 647,
"cds_start": 103,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365426.1"
},
{
"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.517C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482252.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*258C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524584.1"
},
{
"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": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*111C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530160.2"
},
{
"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.*605C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534772.2"
},
{
"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.526C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562200.5"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG4",
"gene_hgnc_id": 18620,
"hgvs_c": "n.*309C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000564415.6"
},
{
"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.478C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703106.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"phenotype_combined": "COG4-congenital disorder of glycosylation|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
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}