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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: 11-9780484-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9780484&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SBF2",
"hgnc_id": 2135,
"hgvs_c": "c.5579_5580delGCinsAT",
"hgvs_p": "p.Cys1860Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001386339.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SBF2-AS1",
"hgnc_id": 27438,
"hgvs_c": "n.144_145delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000534671.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC105369149",
"hgnc_id": null,
"hgvs_c": "n.-63_-62delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_188521.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": "Y",
"aa_end": null,
"aa_length": 1849,
"aa_ref": "C",
"aa_start": 1828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7450,
"cdna_start": 5634,
"cds_end": null,
"cds_length": 5550,
"cds_start": 5483,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030962.4",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5483_5484delGCinsAT",
"hgvs_p": "p.Cys1828Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000256190.13",
"protein_coding": true,
"protein_id": "NP_112224.1",
"strand": false,
"transcript": "NM_030962.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1849,
"aa_ref": "C",
"aa_start": 1828,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7450,
"cdna_start": 5634,
"cds_end": null,
"cds_length": 5550,
"cds_start": 5483,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000256190.13",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5483_5484delGCinsAT",
"hgvs_p": "p.Cys1828Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030962.4",
"protein_coding": true,
"protein_id": "ENSP00000256190.8",
"strand": false,
"transcript": "ENST00000256190.13",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1881,
"aa_ref": "C",
"aa_start": 1860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7546,
"cdna_start": 5730,
"cds_end": null,
"cds_length": 5646,
"cds_start": 5579,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386339.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5579_5580delGCinsAT",
"hgvs_p": "p.Cys1860Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373268.1",
"strand": false,
"transcript": "NM_001386339.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1881,
"aa_ref": "C",
"aa_start": 1860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7279,
"cdna_start": 5639,
"cds_end": null,
"cds_length": 5646,
"cds_start": 5579,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000689128.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5579_5580delGCinsAT",
"hgvs_p": "p.Cys1860Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509587.1",
"strand": false,
"transcript": "ENST00000689128.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1874,
"aa_ref": "C",
"aa_start": 1853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7347,
"cdna_start": 5709,
"cds_end": null,
"cds_length": 5625,
"cds_start": 5558,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675281.2",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5558_5559delGCinsAT",
"hgvs_p": "p.Cys1853Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502491.1",
"strand": false,
"transcript": "ENST00000675281.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1868,
"aa_ref": "C",
"aa_start": 1847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7167,
"cdna_start": 5679,
"cds_end": null,
"cds_length": 5607,
"cds_start": 5540,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676387.2",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5540_5541delGCinsAT",
"hgvs_p": "p.Cys1847Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502779.1",
"strand": false,
"transcript": "ENST00000676387.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "C",
"aa_start": 1840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7880,
"cdna_start": 6064,
"cds_end": null,
"cds_length": 5586,
"cds_start": 5519,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424318.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5519_5520delGCinsAT",
"hgvs_p": "p.Cys1840Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411247.1",
"strand": false,
"transcript": "NM_001424318.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "C",
"aa_start": 1840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7680,
"cdna_start": 5864,
"cds_end": null,
"cds_length": 5586,
"cds_start": 5519,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425070.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5519_5520delGCinsAT",
"hgvs_p": "p.Cys1840Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411999.1",
"strand": false,
"transcript": "NM_001425070.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1847,
"aa_ref": "C",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7452,
"cdna_start": 5636,
"cds_end": null,
"cds_length": 5544,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000689940.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5477_5478delGCinsAT",
"hgvs_p": "p.Cys1826Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508452.1",
"strand": false,
"transcript": "ENST00000689940.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1828,
"aa_ref": "C",
"aa_start": 1807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6667,
"cdna_start": 5562,
"cds_end": null,
"cds_length": 5487,
"cds_start": 5420,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000689258.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5420_5421delGCinsAT",
"hgvs_p": "p.Cys1807Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510475.1",
"strand": false,
"transcript": "ENST00000689258.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1814,
"aa_ref": "C",
"aa_start": 1793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7539,
"cdna_start": 5723,
"cds_end": null,
"cds_length": 5445,
"cds_start": 5378,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425069.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5378_5379delGCinsAT",
"hgvs_p": "p.Cys1793Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411998.1",
"strand": false,
"transcript": "NM_001425069.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "C",
"aa_start": 1785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7321,
"cdna_start": 5505,
"cds_end": null,
"cds_length": 5421,
"cds_start": 5354,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386342.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5354_5355delGCinsAT",
"hgvs_p": "p.Cys1785Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373271.1",
"strand": false,
"transcript": "NM_001386342.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "C",
"aa_start": 1785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9215,
"cdna_start": 5507,
"cds_end": null,
"cds_length": 5421,
"cds_start": 5354,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000692716.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5354_5355delGCinsAT",
"hgvs_p": "p.Cys1785Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509545.1",
"strand": false,
"transcript": "ENST00000692716.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "C",
"aa_start": 1734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9406,
"cdna_start": 5700,
"cds_end": null,
"cds_length": 5268,
"cds_start": 5201,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856971.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5201_5202delGCinsAT",
"hgvs_p": "p.Cys1734Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527030.1",
"strand": false,
"transcript": "ENST00000856971.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "C",
"aa_start": 1697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6763,
"cdna_start": 5091,
"cds_end": null,
"cds_length": 5157,
"cds_start": 5090,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688344.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.5090_5091delGCinsAT",
"hgvs_p": "p.Cys1697Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509987.1",
"strand": false,
"transcript": "ENST00000688344.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 139,
"aa_ref": "C",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 787,
"cds_end": null,
"cds_length": 420,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525040.5",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.353_354delGCinsAT",
"hgvs_p": "p.Cys118Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509177.1",
"strand": false,
"transcript": "ENST00000525040.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000499953.6",
"gene_hgnc_id": 27438,
"gene_symbol": "SBF2-AS1",
"hgvs_c": "n.317_318delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000499953.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000524961.6",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "n.1967_1968delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524961.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000525636.5",
"gene_hgnc_id": 27438,
"gene_symbol": "SBF2-AS1",
"hgvs_c": "n.356_357delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525636.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527406.1",
"gene_hgnc_id": 27438,
"gene_symbol": "SBF2-AS1",
"hgvs_c": "n.319_320delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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