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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: 10-122413044-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=122413044&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PLEKHA1",
"hgnc_id": 14335,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_021622.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2813,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7963773012161255,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001001974.4",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368990.8",
"protein_coding": true,
"protein_id": "NP_001001974.1",
"strand": true,
"transcript": "NM_001001974.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368990.8",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001974.4",
"protein_coding": true,
"protein_id": "ENSP00000357986.3",
"strand": true,
"transcript": "ENST00000368990.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000392799.7",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376547.3",
"strand": true,
"transcript": "ENST00000392799.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 540,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000433307.2",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394416.1",
"strand": true,
"transcript": "ENST00000433307.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 433,
"aa_ref": "Q",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1302,
"cds_start": 554,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919450.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Gln185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589509.1",
"strand": true,
"transcript": "ENST00000919450.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 431,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1296,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949910.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619969.1",
"strand": true,
"transcript": "ENST00000949910.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 422,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1269,
"cds_start": 521,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000878220.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Gln174Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548279.1",
"strand": true,
"transcript": "ENST00000878220.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14062,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001377230.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364159.1",
"strand": true,
"transcript": "NM_001377230.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14812,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001377231.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364160.1",
"strand": true,
"transcript": "NM_001377231.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14285,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001377232.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364161.1",
"strand": true,
"transcript": "NM_001377232.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14278,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001377234.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364163.1",
"strand": true,
"transcript": "NM_001377234.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14221,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001377235.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364164.1",
"strand": true,
"transcript": "NM_001377235.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14066,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_021622.5",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_067635.2",
"strand": true,
"transcript": "NM_021622.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878214.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548273.1",
"strand": true,
"transcript": "ENST00000878214.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878215.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548274.1",
"strand": true,
"transcript": "ENST00000878215.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878216.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548275.1",
"strand": true,
"transcript": "ENST00000878216.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878217.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548276.1",
"strand": true,
"transcript": "ENST00000878217.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878218.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548277.1",
"strand": true,
"transcript": "ENST00000878218.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878222.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548281.1",
"strand": true,
"transcript": "ENST00000878222.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1215,
"cds_start": 467,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878225.1",
"gene_hgnc_id": 14335,
"gene_symbol": "PLEKHA1",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Gln156Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548284.1",
"strand": true,
"transcript": "ENST00000878225.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
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