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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-130137123-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130137123&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AIFM1",
"hgnc_id": 8768,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_004208.4",
"verdict": "Benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286650",
"hgnc_id": null,
"hgvs_c": "n.186-12436G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "ENST00000830747.1",
"verdict": "Benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RAB33A",
"hgnc_id": 9773,
"hgvs_c": "c.30+19738G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "XM_017029963.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6,BS1,BS2",
"acmg_score": -11,
"allele_count_reference_population": 64,
"alphamissense_prediction": null,
"alphamissense_score": 0.5085,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " X-linked 5,Charcot-Marie-Tooth Neuropathy X,Combined oxidative phosphorylation deficiency,Deafness,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0472448468208313,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 613,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004208.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 613,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000287295.8",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 622,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675092.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 611,
"aa_ref": "L",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000319908.8",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Leu343Phe",
"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": "F",
"aa_end": null,
"aa_length": 274,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 918,
"cds_end": null,
"cds_length": 825,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000460436.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"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.*258C>T",
"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.1024C>T",
"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": "F",
"aa_end": null,
"aa_length": 613,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000903846.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 612,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675427.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 612,
"aa_ref": "L",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676328.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Leu343Phe",
"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": "F",
"aa_end": null,
"aa_length": 611,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675857.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"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": "F",
"aa_end": null,
"aa_length": 609,
"aa_ref": "L",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_145812.3",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Leu340Phe",
"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": "F",
"aa_end": null,
"aa_length": 609,
"aa_ref": "L",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676229.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Leu340Phe",
"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": "F",
"aa_end": null,
"aa_length": 609,
"aa_ref": "L",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676436.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Leu340Phe",
"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": "F",
"aa_end": null,
"aa_length": 600,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000903845.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 589,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674546.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 565,
"aa_ref": "L",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675240.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Leu344Phe",
"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": "F",
"aa_end": null,
"aa_length": 326,
"aa_ref": "L",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 193,
"cds_end": null,
"cds_length": 981,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000346424.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Leu57Phe",
"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": "F",
"aa_end": null,
"aa_length": 274,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 918,
"cds_end": null,
"cds_length": 825,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001130846.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"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": "F",
"aa_end": null,
"aa_length": 228,
"aa_ref": "L",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 711,
"cdna_start": 18,
"cds_end": null,
"cds_length": 687,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000830747.1",
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}
],
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"dbsnp": "rs184474885",
"effect": "missense_variant",
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Deafness, X-linked 5|Charcot-Marie-Tooth Neuropathy X;Combined oxidative phosphorylation deficiency|not provided",
"phylop100way_prediction": "Benign",
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"ref": "G",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_004208.4"
}
]
}