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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: X-1294348-AA-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=1294348&ref=AA&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CSF2RA",
"hgnc_id": 2435,
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001161530.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1203,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_172245.4",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381529.9",
"protein_coding": true,
"protein_id": "NP_758448.1",
"strand": true,
"transcript": "NM_172245.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1203,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381529.9",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172245.4",
"protein_coding": true,
"protein_id": "ENSP00000370940.3",
"strand": true,
"transcript": "ENST00000381529.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1233,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381509.8",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370920.3",
"strand": true,
"transcript": "ENST00000381509.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1203,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381524.8",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370935.3",
"strand": true,
"transcript": "ENST00000381524.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1203,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432318.8",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416437.2",
"strand": true,
"transcript": "ENST00000432318.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 377,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1134,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355432.8",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347606.3",
"strand": true,
"transcript": "ENST00000355432.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 333,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1002,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381500.6",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370911.1",
"strand": true,
"transcript": "ENST00000381500.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 233,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": null,
"cds_end": null,
"cds_length": 702,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355805.7",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.646+3839_646+3840delAAinsTC",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348058.2",
"strand": true,
"transcript": "ENST00000355805.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000486791.6",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "n.667_668delAAinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436825.1",
"strand": true,
"transcript": "ENST00000486791.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001161530.2",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155002.1",
"strand": true,
"transcript": "NM_001161530.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379153.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366082.1",
"strand": true,
"transcript": "NM_001379153.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379154.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366083.1",
"strand": true,
"transcript": "NM_001379154.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498153.7",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512483.1",
"strand": true,
"transcript": "ENST00000498153.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886980.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557039.1",
"strand": true,
"transcript": "ENST00000886980.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969306.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639365.1",
"strand": true,
"transcript": "ENST00000969306.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969309.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639368.1",
"strand": true,
"transcript": "ENST00000969309.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 434,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1305,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969311.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639370.1",
"strand": true,
"transcript": "ENST00000969311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 431,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1296,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718260.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520700.1",
"strand": true,
"transcript": "ENST00000718260.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1233,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001161531.2",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155003.1",
"strand": true,
"transcript": "NM_001161531.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1233,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379155.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366084.1",
"strand": true,
"transcript": "NM_001379155.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 408,
"aa_ref": "N",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1227,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886981.1",
"gene_hgnc_id": 2435,
"gene_symbol": "CSF2RA",
"hgvs_c": "c.667_668delAAinsTC",
"hgvs_p": "p.Asn223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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