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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: 2-120990577-TCC-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120990577&ref=TCC&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLI2",
"hgnc_id": 4318,
"hgvs_c": "c.4663_4665delTCCinsCCT",
"hgvs_p": "p.Ser1555Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_005270.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCT",
"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": "P",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "S",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 5060,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374353.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4612_4614delTCCinsCCT",
"hgvs_p": "p.Ser1538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361492.9",
"protein_coding": true,
"protein_id": "NP_001361282.1",
"strand": true,
"transcript": "NM_001374353.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "S",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 5060,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361492.9",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4612_4614delTCCinsCCT",
"hgvs_p": "p.Ser1538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374353.1",
"protein_coding": true,
"protein_id": "ENSP00000354586.5",
"strand": true,
"transcript": "ENST00000361492.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 5111,
"cds_end": null,
"cds_length": 4761,
"cds_start": 4663,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371271.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4663_4665delTCCinsCCT",
"hgvs_p": "p.Ser1555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358200.1",
"strand": true,
"transcript": "NM_001371271.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6927,
"cdna_start": 4851,
"cds_end": null,
"cds_length": 4761,
"cds_start": 4663,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005270.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4663_4665delTCCinsCCT",
"hgvs_p": "p.Ser1555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005261.2",
"strand": true,
"transcript": "NM_005270.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4761,
"cdna_start": 4663,
"cds_end": null,
"cds_length": 4761,
"cds_start": 4663,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452319.6",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4663_4665delTCCinsCCT",
"hgvs_p": "p.Ser1555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390436.1",
"strand": true,
"transcript": "ENST00000452319.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1567,
"aa_ref": "S",
"aa_start": 1536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 5059,
"cds_end": null,
"cds_length": 4704,
"cds_start": 4606,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934404.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4606_4608delTCCinsCCT",
"hgvs_p": "p.Ser1536Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604463.1",
"strand": true,
"transcript": "ENST00000934404.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "S",
"aa_start": 1517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 4997,
"cds_end": null,
"cds_length": 4647,
"cds_start": 4549,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934405.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4549_4551delTCCinsCCT",
"hgvs_p": "p.Ser1517Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604464.1",
"strand": true,
"transcript": "ENST00000934405.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "S",
"aa_start": 1476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6818,
"cdna_start": 4896,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4426,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869361.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4426_4428delTCCinsCCT",
"hgvs_p": "p.Ser1476Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539420.1",
"strand": true,
"transcript": "ENST00000869361.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "S",
"aa_start": 1413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7030,
"cdna_start": 4954,
"cds_end": null,
"cds_length": 4335,
"cds_start": 4237,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374354.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4237_4239delTCCinsCCT",
"hgvs_p": "p.Ser1413Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361283.1",
"strand": true,
"transcript": "NM_001374354.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "S",
"aa_start": 1373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 4329,
"cds_end": null,
"cds_length": 4215,
"cds_start": 4117,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934406.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4117_4119delTCCinsCCT",
"hgvs_p": "p.Ser1373Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604465.1",
"strand": true,
"transcript": "ENST00000934406.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "S",
"aa_start": 1549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 4654,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4645,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510969.3",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4645_4647delTCCinsCCT",
"hgvs_p": "p.Ser1549Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509271.3",
"strand": true,
"transcript": "XM_011510969.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "S",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6876,
"cdna_start": 4800,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443947.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4612_4614delTCCinsCCT",
"hgvs_p": "p.Ser1538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299903.1",
"strand": true,
"transcript": "XM_047443947.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "S",
"aa_start": 1532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6679,
"cdna_start": 4603,
"cds_end": null,
"cds_length": 4692,
"cds_start": 4594,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003818.2",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4594_4596delTCCinsCCT",
"hgvs_p": "p.Ser1532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859307.2",
"strand": true,
"transcript": "XM_017003818.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "S",
"aa_start": 1490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6705,
"cdna_start": 4629,
"cds_end": null,
"cds_length": 4566,
"cds_start": 4468,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510971.3",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.4468_4470delTCCinsCCT",
"hgvs_p": "p.Ser1490Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509273.1",
"strand": true,
"transcript": "XM_011510971.3",
"transcript_support_level": null
},
{
"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": 4904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000341310.10",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*3711_*3713delTCCinsCCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000344473.6",
"strand": true,
"transcript": "ENST00000341310.10",
"transcript_support_level": 2
},
{
"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": 4955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000445186.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*3762_*3764delTCCinsCCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397488.1",
"strand": true,
"transcript": "ENST00000445186.5",
"transcript_support_level": 5
},
{
"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": 4904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000341310.10",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*3711_*3713delTCCinsCCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000344473.6",
"strand": true,
"transcript": "ENST00000341310.10",
"transcript_support_level": 2
},
{
"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": 4955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000445186.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*3762_*3764delTCCinsCCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397488.1",
"strand": true,
"transcript": "ENST00000445186.5",
"transcript_support_level": 5
},
{
"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": 3724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438299.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*2544-13_*2544-11delTCCinsCCT",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400593.1",
"strand": true,
"transcript": "ENST00000438299.5",
"transcript_support_level": 5
},
{
"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": 3673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452692.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*2493-13_*2493-11delTCCinsCCT",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403715.1",
"strand": true,
"transcript": "ENST00000452692.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
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}
]
}