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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: 9-83970241-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83970241&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83970241,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002140.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "NM_031263.4",
"protein_id": "NP_112553.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376263.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031263.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000376263.8",
"protein_id": "ENSP00000365439.3",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376263.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000376281.8",
"protein_id": "ENSP00000365458.4",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376281.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000360384.9",
"protein_id": "ENSP00000353552.5",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360384.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "NM_002140.5",
"protein_id": "NP_002131.2",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002140.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704005.1",
"protein_id": "ENSP00000515618.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704005.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704011.1",
"protein_id": "ENSP00000515624.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704011.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704057.1",
"protein_id": "ENSP00000515660.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704057.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704059.1",
"protein_id": "ENSP00000515662.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704059.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000946124.1",
"protein_id": "ENSP00000616183.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946124.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000946131.1",
"protein_id": "ENSP00000616190.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946131.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000946133.1",
"protein_id": "ENSP00000616192.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946133.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000946134.1",
"protein_id": "ENSP00000616193.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946134.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000946138.1",
"protein_id": "ENSP00000616197.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946138.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000946143.1",
"protein_id": "ENSP00000616202.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946143.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "NM_001318188.2",
"protein_id": "NP_001305117.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318188.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "NM_031262.4",
"protein_id": "NP_112552.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031262.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704006.1",
"protein_id": "ENSP00000515619.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704006.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704051.1",
"protein_id": "ENSP00000515654.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704051.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704052.1",
"protein_id": "ENSP00000515655.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704052.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704053.1",
"protein_id": "ENSP00000515656.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704053.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln",
"transcript": "ENST00000704058.1",
"protein_id": "ENSP00000515661.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
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"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.5065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.597,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 2,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002140.5",
"gene_symbol": "HNRNPK",
"hgnc_id": 5044,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Glu428Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000448389.2",
"gene_symbol": "HNRNPK-AS1",
"hgnc_id": 56061,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146-1768C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}