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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: 5-93585312-CAC-GAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=93585312&ref=CAC&alt=GAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NR2F1",
"hgnc_id": 7975,
"hgvs_c": "c.289_291delCACinsGAT",
"hgvs_p": "p.His97Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_005654.6",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NR2F1-AS1",
"hgnc_id": 48622,
"hgvs_c": "n.206+70_206+72delGTGinsATC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NR_186215.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM5,PP2,PP3",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": "D",
"aa_end": null,
"aa_length": 423,
"aa_ref": "H",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1272,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005654.6",
"gene_hgnc_id": 7975,
"gene_symbol": "NR2F1",
"hgvs_c": "c.289_291delCACinsGAT",
"hgvs_p": "p.His97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327111.8",
"protein_coding": true,
"protein_id": "NP_005645.1",
"strand": true,
"transcript": "NM_005654.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 423,
"aa_ref": "H",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1272,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327111.8",
"gene_hgnc_id": 7975,
"gene_symbol": "NR2F1",
"hgvs_c": "c.289_291delCACinsGAT",
"hgvs_p": "p.His97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005654.6",
"protein_coding": true,
"protein_id": "ENSP00000325819.3",
"strand": true,
"transcript": "ENST00000327111.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 398,
"aa_ref": "H",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1197,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615873.2",
"gene_hgnc_id": 7975,
"gene_symbol": "NR2F1",
"hgvs_c": "c.214_216delCACinsGAT",
"hgvs_p": "p.His72Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481517.1",
"strand": true,
"transcript": "ENST00000615873.2",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 372,
"aa_ref": "H",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 136,
"cds_end": null,
"cds_length": 1119,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647447.1",
"gene_hgnc_id": 7975,
"gene_symbol": "NR2F1",
"hgvs_c": "c.136_138delCACinsGAT",
"hgvs_p": "p.His46Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495740.1",
"strand": true,
"transcript": "ENST00000647447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513055.2",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.216+70_216+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000513055.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000656155.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.261+15_261+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000656155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657648.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.206+15_206+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000657648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000659336.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.239+70_239+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000659336.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000659381.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.299+15_299+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000659381.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000661573.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.53+15_53+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000661573.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000661870.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.254+70_254+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000661870.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000664168.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.206+70_206+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000664168.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000666033.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.321+15_321+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000666033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000670813.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.265+70_265+72delGTGinsATC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000670813.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186215.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.206+70_206+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_186215.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186216.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.261+15_261+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_186216.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186217.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.206+70_206+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "NR_186217.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_start": null,
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"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186218.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.261+15_261+17delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_186218.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186219.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.206+70_206+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_186219.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186220.1",
"gene_hgnc_id": 48622,
"gene_symbol": "NR2F1-AS1",
"hgvs_c": "n.206+70_206+72delGTGinsATC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_186220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186221.1",
"gene_hgnc_id": 48622,
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