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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: 9-83975462-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83975462&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "HNRNPK",
"hgnc_id": 5044,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"inheritance_mode": "AD",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_002140.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "HNRNPK-AS1",
"hgnc_id": 56061,
"hgvs_c": "n.444C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "ENST00000448389.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9997,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "9",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Au-Kline syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1 O:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6948122978210449,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_031263.4",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376263.8",
"protein_coding": true,
"protein_id": "NP_112553.1",
"strand": false,
"transcript": "NM_031263.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376263.8",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031263.4",
"protein_coding": true,
"protein_id": "ENSP00000365439.3",
"strand": false,
"transcript": "ENST00000376263.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376281.8",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365458.4",
"strand": false,
"transcript": "ENST00000376281.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1392,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000360384.9",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353552.5",
"strand": false,
"transcript": "ENST00000360384.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_002140.5",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002131.2",
"strand": false,
"transcript": "NM_002140.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 402,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000704005.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515618.1",
"strand": false,
"transcript": "ENST00000704005.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 431,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704011.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515624.1",
"strand": false,
"transcript": "ENST00000704011.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704057.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515660.1",
"strand": false,
"transcript": "ENST00000704057.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704059.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515662.1",
"strand": false,
"transcript": "ENST00000704059.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946124.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616183.1",
"strand": false,
"transcript": "ENST00000946124.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946131.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616190.1",
"strand": false,
"transcript": "ENST00000946131.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946133.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616192.1",
"strand": false,
"transcript": "ENST00000946133.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946134.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616193.1",
"strand": false,
"transcript": "ENST00000946134.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946138.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616197.1",
"strand": false,
"transcript": "ENST00000946138.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1395,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946143.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616202.1",
"strand": false,
"transcript": "ENST00000946143.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1392,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318188.2",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305117.1",
"strand": false,
"transcript": "NM_001318188.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1392,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_031262.4",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112552.1",
"strand": false,
"transcript": "NM_031262.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1392,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704006.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515619.1",
"strand": false,
"transcript": "ENST00000704006.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1392,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704051.1",
"gene_hgnc_id": 5044,
"gene_symbol": "HNRNPK",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515654.1",
"strand": false,
"transcript": "ENST00000704051.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 378,
"cds_end": null,
"cds_length": 1392,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000704052.1",
"gene_hgnc_id": 5044,
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Au-Kline syndrome",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.542,
"pos": 83975462,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.314,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9980000257492065,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.74,
"transcript": "NM_002140.5"
}
]
}