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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: 19-18169144-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18169144&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18169144,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005027.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "NM_005027.4",
"protein_id": "NP_005018.2",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 728,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222254.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005027.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "ENST00000222254.13",
"protein_id": "ENSP00000222254.6",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 728,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005027.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222254.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268173",
"gene_hgnc_id": null,
"hgvs_c": "n.2037C>G",
"hgvs_p": null,
"transcript": "ENST00000593731.1",
"protein_id": "ENSP00000471914.1",
"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": "ENST00000593731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*1065C>G",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*1065C>G",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2067C>G",
"hgvs_p": "p.Phe689Leu",
"transcript": "ENST00000925098.1",
"protein_id": "ENSP00000595157.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 738,
"cds_start": 2067,
"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": "ENST00000925098.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "ENST00000874456.1",
"protein_id": "ENSP00000544515.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 728,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874456.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "ENST00000874458.1",
"protein_id": "ENSP00000544517.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 728,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874458.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "ENST00000965709.1",
"protein_id": "ENSP00000635768.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 728,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965709.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "ENST00000965710.1",
"protein_id": "ENSP00000635769.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 728,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965710.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2034C>G",
"hgvs_p": "p.Phe678Leu",
"transcript": "ENST00000925097.1",
"protein_id": "ENSP00000595156.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 727,
"cds_start": 2034,
"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": "ENST00000925097.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.Phe677Leu",
"transcript": "ENST00000874453.1",
"protein_id": "ENSP00000544512.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 726,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874453.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.Phe677Leu",
"transcript": "ENST00000925100.1",
"protein_id": "ENSP00000595159.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 726,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925100.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2019C>G",
"hgvs_p": "p.Phe673Leu",
"transcript": "ENST00000874457.1",
"protein_id": "ENSP00000544516.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 722,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874457.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2010C>G",
"hgvs_p": "p.Phe670Leu",
"transcript": "ENST00000874459.1",
"protein_id": "ENSP00000544518.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 719,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874459.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1965C>G",
"hgvs_p": "p.Phe655Leu",
"transcript": "ENST00000925099.1",
"protein_id": "ENSP00000595158.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 704,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925099.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1944C>G",
"hgvs_p": "p.Phe648Leu",
"transcript": "ENST00000874454.1",
"protein_id": "ENSP00000544513.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 697,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874454.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1905C>G",
"hgvs_p": "p.Phe635Leu",
"transcript": "ENST00000925096.1",
"protein_id": "ENSP00000595155.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 684,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925096.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1905C>G",
"hgvs_p": "p.Phe635Leu",
"transcript": "ENST00000925101.1",
"protein_id": "ENSP00000595160.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 684,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925101.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1854C>G",
"hgvs_p": "p.Phe618Leu",
"transcript": "ENST00000874455.1",
"protein_id": "ENSP00000544514.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 667,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*640C>G",
"hgvs_p": null,
"transcript": "ENST00000426902.5",
"protein_id": "ENSP00000395636.1",
"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": "ENST00000426902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.457C>G",
"hgvs_p": null,
"transcript": "ENST00000459743.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 4,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}