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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: X-20209318-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20209318&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20209318,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004586.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "NM_004586.3",
"protein_id": "NP_004577.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 740,
"cds_start": 213,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379565.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004586.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000379565.9",
"protein_id": "ENSP00000368884.3",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 740,
"cds_start": 213,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379565.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000952699.1",
"protein_id": "ENSP00000622758.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 756,
"cds_start": 213,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952699.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000916293.1",
"protein_id": "ENSP00000586352.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 746,
"cds_start": 213,
"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": "ENST00000916293.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000952703.1",
"protein_id": "ENSP00000622762.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 745,
"cds_start": 213,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952703.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000952700.1",
"protein_id": "ENSP00000622759.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 742,
"cds_start": 213,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952700.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000916295.1",
"protein_id": "ENSP00000586354.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 738,
"cds_start": 213,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916295.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000916291.1",
"protein_id": "ENSP00000586350.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 737,
"cds_start": 213,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916291.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.156A>G",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000952702.1",
"protein_id": "ENSP00000622761.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 727,
"cds_start": 156,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952702.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.156A>G",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000916294.1",
"protein_id": "ENSP00000586353.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 721,
"cds_start": 156,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916294.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu",
"transcript": "ENST00000952698.1",
"protein_id": "ENSP00000622757.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 713,
"cds_start": 213,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952698.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "NM_001438340.1",
"protein_id": "NP_001425269.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438340.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000642835.1",
"protein_id": "ENSP00000494769.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642835.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000643085.1",
"protein_id": "ENSP00000496271.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643085.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000643337.1",
"protein_id": "ENSP00000493487.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643337.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000643402.1",
"protein_id": "ENSP00000493862.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643402.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000644368.1",
"protein_id": "ENSP00000495776.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644368.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000645270.1",
"protein_id": "ENSP00000494967.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645270.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000646610.1",
"protein_id": "ENSP00000495462.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646610.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000647265.1",
"protein_id": "ENSP00000494220.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 712,
"cds_start": 129,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647265.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.126A>G",
"hgvs_p": "p.Leu42Leu",
"transcript": "ENST00000457145.6",
"protein_id": "ENSP00000407655.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 711,
"cds_start": 126,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457145.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000644893.1",
"protein_id": "ENSP00000495974.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 711,
"cds_start": 129,
"cds_end": null,
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"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004586.3",
"gene_symbol": "RPS6KA3",
"hgnc_id": 10432,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,XL",
"hgvs_c": "c.213A>G",
"hgvs_p": "p.Leu71Leu"
}
],
"clinvar_disease": " X-linked 19,Coffin-Lowry syndrome,Inborn genetic diseases,Intellectual disability,RPS6KA3-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "not specified|Intellectual disability, X-linked 19;Coffin-Lowry syndrome|RPS6KA3-related disorder|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}