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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: 7-43647552-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43647552&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 43647552,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018224.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_018224.4",
"protein_id": "NP_060694.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223336.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018224.4"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "ENST00000223336.11",
"protein_id": "ENSP00000223336.6",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018224.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223336.11"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "ENST00000395879.5",
"protein_id": "ENSP00000379218.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395879.5"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "ENST00000418140.5",
"protein_id": "ENSP00000410365.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 63,
"cds_start": 98,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418140.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "n.1275T>A",
"hgvs_p": null,
"transcript": "ENST00000448704.5",
"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": "pseudogene",
"feature": "ENST00000448704.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "n.292T>A",
"hgvs_p": null,
"transcript": "ENST00000470156.1",
"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": "pseudogene",
"feature": "ENST00000470156.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "ENST00000896980.1",
"protein_id": "ENSP00000567039.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 152,
"cds_start": 98,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896980.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "ENST00000934874.1",
"protein_id": "ENSP00000604933.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 152,
"cds_start": 98,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934874.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001321197.2",
"protein_id": "NP_001308126.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321197.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001321198.2",
"protein_id": "NP_001308127.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321198.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001321199.2",
"protein_id": "NP_001308128.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321199.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001321200.2",
"protein_id": "NP_001308129.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321200.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001350924.2",
"protein_id": "NP_001337853.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350924.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001350925.2",
"protein_id": "NP_001337854.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350925.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001350926.2",
"protein_id": "NP_001337855.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350926.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001350927.2",
"protein_id": "NP_001337856.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350927.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001371307.1",
"protein_id": "NP_001358236.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371307.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001371308.1",
"protein_id": "NP_001358237.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371308.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001371309.1",
"protein_id": "NP_001358238.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371309.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001371310.1",
"protein_id": "NP_001358239.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371310.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001371311.1",
"protein_id": "NP_001358240.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371311.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COA1",
"gene_hgnc_id": 21868,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "NM_001371312.1",
"protein_id": "NP_001358241.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 98,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371312.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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"splice_prediction_selected": "Benign",
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{
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{
"score": 0,
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}