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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: 2-27374385-CT-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27374385&ref=CT&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SNX17",
"hgnc_id": 14979,
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014748.4",
"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": "2",
"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": "F",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1413,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014748.4",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233575.7",
"protein_coding": true,
"protein_id": "NP_055563.1",
"strand": true,
"transcript": "NM_014748.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1413,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000233575.7",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014748.4",
"protein_coding": true,
"protein_id": "ENSP00000233575.2",
"strand": true,
"transcript": "ENST00000233575.7",
"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": 1955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440760.5",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "n.*408_*409delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399727.1",
"strand": true,
"transcript": "ENST00000440760.5",
"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": 1638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000453453.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "n.*160_*161delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401922.1",
"strand": true,
"transcript": "ENST00000453453.1",
"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": 1955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440760.5",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "n.*408_*409delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399727.1",
"strand": true,
"transcript": "ENST00000440760.5",
"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": 1638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000453453.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "n.*160_*161delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401922.1",
"strand": true,
"transcript": "ENST00000453453.1",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 483,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1452,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901243.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571302.1",
"strand": true,
"transcript": "ENST00000901243.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 481,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1446,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901237.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571296.1",
"strand": true,
"transcript": "ENST00000901237.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 473,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1422,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901233.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571292.1",
"strand": true,
"transcript": "ENST00000901233.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1410,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901239.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.560_561delCTinsTC",
"hgvs_p": "p.Ser187Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571298.1",
"strand": true,
"transcript": "ENST00000901239.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1410,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901244.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571303.1",
"strand": true,
"transcript": "ENST00000901244.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1410,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917628.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.560_561delCTinsTC",
"hgvs_p": "p.Ser187Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587687.1",
"strand": true,
"transcript": "ENST00000917628.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1410,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917629.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.527_528delCTinsTC",
"hgvs_p": "p.Ser176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587688.1",
"strand": true,
"transcript": "ENST00000917629.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 466,
"aa_ref": "S",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1401,
"cds_start": 551,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917631.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.551_552delCTinsTC",
"hgvs_p": "p.Ser184Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587690.1",
"strand": true,
"transcript": "ENST00000917631.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "S",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1377,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267059.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.527_528delCTinsTC",
"hgvs_p": "p.Ser176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253988.1",
"strand": true,
"transcript": "NM_001267059.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "S",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1377,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901238.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.527_528delCTinsTC",
"hgvs_p": "p.Ser176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571297.1",
"strand": true,
"transcript": "ENST00000901238.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 450,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1353,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267061.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.503_504delCTinsTC",
"hgvs_p": "p.Ser168Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253990.1",
"strand": true,
"transcript": "NM_001267061.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1338,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267060.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.488_489delCTinsTC",
"hgvs_p": "p.Ser163Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253989.1",
"strand": true,
"transcript": "NM_001267060.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1338,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537606.5",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.488_489delCTinsTC",
"hgvs_p": "p.Ser163Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439208.1",
"strand": true,
"transcript": "ENST00000537606.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1338,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901236.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571295.1",
"strand": true,
"transcript": "ENST00000901236.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1338,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901241.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.563_564delCTinsTC",
"hgvs_p": "p.Ser188Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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