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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: 6-488984-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=488984&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 488984,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018303.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "NM_018303.6",
"protein_id": "NP_060773.3",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230449.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018303.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000230449.9",
"protein_id": "ENSP00000230449.4",
"transcript_support_level": 1,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018303.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230449.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2778T>G",
"hgvs_p": "p.Asp926Glu",
"transcript": "ENST00000930291.1",
"protein_id": "ENSP00000600350.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 958,
"cds_start": 2778,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930291.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2766T>G",
"hgvs_p": "p.Asp922Glu",
"transcript": "ENST00000930294.1",
"protein_id": "ENSP00000600353.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 954,
"cds_start": 2766,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930294.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2700T>G",
"hgvs_p": "p.Asp900Glu",
"transcript": "ENST00000949692.1",
"protein_id": "ENSP00000619751.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 932,
"cds_start": 2700,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949692.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000870874.1",
"protein_id": "ENSP00000540933.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870874.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000870875.1",
"protein_id": "ENSP00000540934.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870875.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000870876.1",
"protein_id": "ENSP00000540935.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870876.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000870878.1",
"protein_id": "ENSP00000540937.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870878.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000930287.1",
"protein_id": "ENSP00000600346.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930287.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000930288.1",
"protein_id": "ENSP00000600347.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930288.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000930292.1",
"protein_id": "ENSP00000600351.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930292.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000930293.1",
"protein_id": "ENSP00000600352.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930293.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.Asp892Glu",
"transcript": "ENST00000930296.1",
"protein_id": "ENSP00000600355.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 924,
"cds_start": 2676,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930296.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2673T>G",
"hgvs_p": "p.Asp891Glu",
"transcript": "ENST00000870879.1",
"protein_id": "ENSP00000540938.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 923,
"cds_start": 2673,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870879.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2667T>G",
"hgvs_p": "p.Asp889Glu",
"transcript": "ENST00000930295.1",
"protein_id": "ENSP00000600354.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 921,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930295.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2637T>G",
"hgvs_p": "p.Asp879Glu",
"transcript": "ENST00000949691.1",
"protein_id": "ENSP00000619750.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 911,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949691.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2634T>G",
"hgvs_p": "p.Asp878Glu",
"transcript": "ENST00000949687.1",
"protein_id": "ENSP00000619746.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 910,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949687.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2562T>G",
"hgvs_p": "p.Asp854Glu",
"transcript": "ENST00000949689.1",
"protein_id": "ENSP00000619748.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 886,
"cds_start": 2562,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949689.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2559T>G",
"hgvs_p": "p.Asp853Glu",
"transcript": "ENST00000930290.1",
"protein_id": "ENSP00000600349.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 885,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930290.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2550T>G",
"hgvs_p": "p.Asp850Glu",
"transcript": "ENST00000949686.1",
"protein_id": "ENSP00000619745.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 882,
"cds_start": 2550,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949686.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2499T>G",
"hgvs_p": "p.Asp833Glu",
"transcript": "ENST00000949688.1",
"protein_id": "ENSP00000619747.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 865,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}