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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: 5-36674080-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=36674080&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 36674080,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438458.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_004172.5",
"protein_id": "NP_004163.3",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265113.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004172.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000265113.9",
"protein_id": "ENSP00000265113.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004172.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265113.9"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000381918.4",
"protein_id": "ENSP00000371343.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381918.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001438458.1",
"protein_id": "NP_001425387.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 589,
"cds_start": 556,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438458.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000680232.1",
"protein_id": "ENSP00000506207.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 589,
"cds_start": 556,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680232.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.577T>A",
"hgvs_p": "p.Cys193Ser",
"transcript": "ENST00000936089.1",
"protein_id": "ENSP00000606148.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 549,
"cds_start": 577,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936089.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001438454.1",
"protein_id": "NP_001425383.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438454.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001438455.1",
"protein_id": "NP_001425384.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438455.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001438456.1",
"protein_id": "NP_001425385.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438456.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001438457.1",
"protein_id": "NP_001425386.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438457.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000679983.1",
"protein_id": "ENSP00000505238.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679983.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000679992.1",
"protein_id": "ENSP00000506585.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679992.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000680318.1",
"protein_id": "ENSP00000505057.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680318.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000858306.1",
"protein_id": "ENSP00000528365.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858306.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000858307.1",
"protein_id": "ENSP00000528366.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858307.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000858308.1",
"protein_id": "ENSP00000528367.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 556,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858308.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001166695.3",
"protein_id": "NP_001160167.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 497,
"cds_start": 556,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166695.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "NM_001438459.1",
"protein_id": "NP_001425388.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 497,
"cds_start": 556,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438459.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000680125.1",
"protein_id": "ENSP00000506424.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 497,
"cds_start": 556,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680125.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000681926.1",
"protein_id": "ENSP00000505850.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 497,
"cds_start": 556,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681926.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Cys186Ser",
"transcript": "ENST00000936087.1",
"protein_id": "ENSP00000606146.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 497,
"cds_start": 556,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936087.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.418T>A",
"hgvs_p": "p.Cys140Ser",
"transcript": "NM_001289939.2",
"protein_id": "NP_001276868.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 496,
"cds_start": 418,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"verdict": "Likely_pathogenic",
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{
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],
"clinvar_disease": "Episodic ataxia type 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Episodic ataxia type 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}