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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: 5-68293360-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68293360&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIK3R1",
"hgnc_id": 8979,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_181523.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8222761154174805,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6975,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_181523.3",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000521381.6",
"protein_coding": true,
"protein_id": "NP_852664.1",
"strand": true,
"transcript": "NM_181523.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6975,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000521381.6",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181523.3",
"protein_coding": true,
"protein_id": "ENSP00000428056.1",
"strand": true,
"transcript": "ENST00000521381.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5460,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1365,
"cds_start": 366,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000336483.10",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Phe122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338554.5",
"strand": true,
"transcript": "ENST00000336483.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 424,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5838,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1275,
"cds_start": 276,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000320694.13",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.276C>G",
"hgvs_p": "p.Phe92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323512.8",
"strand": true,
"transcript": "ENST00000320694.13",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 732,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 1771,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000697461.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513319.1",
"strand": true,
"transcript": "ENST00000697461.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 732,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870050.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540109.1",
"strand": true,
"transcript": "ENST00000870050.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6309,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000517643.2",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513333.1",
"strand": true,
"transcript": "ENST00000517643.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6641,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000521657.6",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429277.1",
"strand": true,
"transcript": "ENST00000521657.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 2546,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000697458.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513316.1",
"strand": true,
"transcript": "ENST00000697458.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870051.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540110.1",
"strand": true,
"transcript": "ENST00000870051.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870052.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540111.1",
"strand": true,
"transcript": "ENST00000870052.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 3847,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870053.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540112.1",
"strand": true,
"transcript": "ENST00000870053.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 724,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3917,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961623.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631682.1",
"strand": true,
"transcript": "ENST00000961623.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 705,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870049.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540108.1",
"strand": true,
"transcript": "ENST00000870049.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 699,
"aa_ref": "F",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6439,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1101,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000697457.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1101C>G",
"hgvs_p": "p.Phe367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513315.1",
"strand": true,
"transcript": "ENST00000697457.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "F",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4184,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1176,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961622.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Phe392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631681.1",
"strand": true,
"transcript": "ENST00000961622.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 549,
"aa_ref": "F",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1650,
"cds_start": 651,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000697460.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.651C>G",
"hgvs_p": "p.Phe217Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513318.1",
"strand": true,
"transcript": "ENST00000697460.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1389,
"cds_start": 366,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697462.1",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Phe122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513320.1",
"strand": true,
"transcript": "ENST00000697462.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 431,
"cds_end": null,
"cds_length": 1365,
"cds_start": 366,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_181504.4",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Phe122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852556.2",
"strand": true,
"transcript": "NM_181504.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1365,
"cds_start": 366,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000522084.6",
"gene_hgnc_id": 8979,
"gene_symbol": "PIK3R1",
"hgvs_c": "c.366C>G",
"hgvs_p": "p.Phe122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429766.2",
"strand": true,
"transcript": "ENST00000522084.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 424,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5712,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1275,
"cds_start": 276,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
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