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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-130137107-CT-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130137107&ref=CT&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AIFM1",
"hgnc_id": 8768,
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004208.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286650",
"hgnc_id": null,
"hgvs_c": "n.186-12452_186-12451delCTinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000830747.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "RAB33A",
"hgnc_id": 9773,
"hgvs_c": "c.30+19722_30+19723delCTinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "XM_017029963.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"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": 613,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004208.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287295.8",
"protein_coding": true,
"protein_id": "NP_004199.1",
"strand": false,
"transcript": "NM_004208.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 613,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000287295.8",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004208.4",
"protein_coding": true,
"protein_id": "ENSP00000287295.3",
"strand": false,
"transcript": "ENST00000287295.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675092.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501772.1",
"strand": false,
"transcript": "ENST00000675092.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "S",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1042,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319908.8",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1042_1043delAGinsTC",
"hgvs_p": "p.349",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315122.4",
"strand": false,
"transcript": "ENST00000319908.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 934,
"cds_end": null,
"cds_length": 825,
"cds_start": 28,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460436.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.28_29delAGinsTC",
"hgvs_p": "p.11",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431222.1",
"strand": false,
"transcript": "ENST00000460436.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000535724.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.*273_*274delAGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446113.2",
"strand": false,
"transcript": "ENST00000535724.6",
"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": 2061,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000416073.7",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.1039_1040delAGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402535.3",
"strand": false,
"transcript": "ENST00000416073.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 613,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903846.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573905.1",
"strand": false,
"transcript": "ENST00000903846.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 612,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675427.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501880.1",
"strand": false,
"transcript": "ENST00000675427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 612,
"aa_ref": "S",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1042,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676328.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1042_1043delAGinsTC",
"hgvs_p": "p.349",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502068.1",
"strand": false,
"transcript": "ENST00000676328.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "S",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1039,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675857.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1039_1040delAGinsTC",
"hgvs_p": "p.348",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502721.1",
"strand": false,
"transcript": "ENST00000675857.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 609,
"aa_ref": "S",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1033,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145812.3",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1033_1034delAGinsTC",
"hgvs_p": "p.346",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665811.1",
"strand": false,
"transcript": "NM_145812.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 609,
"aa_ref": "S",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1033,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676229.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1033_1034delAGinsTC",
"hgvs_p": "p.346",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502184.1",
"strand": false,
"transcript": "ENST00000676229.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 609,
"aa_ref": "S",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1033,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676436.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1033_1034delAGinsTC",
"hgvs_p": "p.346",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502669.1",
"strand": false,
"transcript": "ENST00000676436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903845.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573904.1",
"strand": false,
"transcript": "ENST00000903845.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674546.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501950.1",
"strand": false,
"transcript": "ENST00000674546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 565,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1045,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675240.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1045_1046delAGinsTC",
"hgvs_p": "p.350",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501907.1",
"strand": false,
"transcript": "ENST00000675240.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 209,
"cds_end": null,
"cds_length": 981,
"cds_start": 184,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346424.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.184_185delAGinsTC",
"hgvs_p": "p.63",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316320.3",
"strand": false,
"transcript": "ENST00000346424.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 934,
"cds_end": null,
"cds_length": 825,
"cds_start": 28,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130846.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.28_29delAGinsTC",
"hgvs_p": "p.11",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124318.2",
"strand": false,
"transcript": "NM_001130846.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 228,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 711,
"cdna_start": 34,
"cds_end": null,
"cds_length": 687,
"cds_start": 31,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674601.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.31_32delAGinsTC",
"hgvs_p": "p.12",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502764.1",
"strand": false,
"transcript": "ENST00000674601.1",
"transcript_support_level": null
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}
]
}