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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: 2-218812680-AA-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218812680&ref=AA&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP27A1",
"hgnc_id": 2605,
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000784.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Very_Strong",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"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": "R",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1596,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000784.4",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258415.9",
"protein_coding": true,
"protein_id": "NP_000775.1",
"strand": true,
"transcript": "NM_000784.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1596,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000258415.9",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000784.4",
"protein_coding": true,
"protein_id": "ENSP00000258415.4",
"strand": true,
"transcript": "ENST00000258415.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1626,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901552.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571611.1",
"strand": true,
"transcript": "ENST00000901552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 537,
"aa_ref": "K",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1614,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901553.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.793_794delAAinsCG",
"hgvs_p": "p.Lys265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571612.1",
"strand": true,
"transcript": "ENST00000901553.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1590,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901558.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571617.1",
"strand": true,
"transcript": "ENST00000901558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 528,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1587,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901557.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571616.1",
"strand": true,
"transcript": "ENST00000901557.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 525,
"aa_ref": "K",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1578,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901561.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.757_758delAAinsCG",
"hgvs_p": "p.Lys253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571620.1",
"strand": true,
"transcript": "ENST00000901561.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1554,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901554.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571613.1",
"strand": true,
"transcript": "ENST00000901554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1551,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901555.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.730_731delAAinsCG",
"hgvs_p": "p.Lys244Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571614.1",
"strand": true,
"transcript": "ENST00000901555.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 513,
"aa_ref": "K",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1542,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901562.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.721_722delAAinsCG",
"hgvs_p": "p.Lys241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571621.1",
"strand": true,
"transcript": "ENST00000901562.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "K",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1530,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901560.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.709_710delAAinsCG",
"hgvs_p": "p.Lys237Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571619.1",
"strand": true,
"transcript": "ENST00000901560.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 484,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1455,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901563.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571622.1",
"strand": true,
"transcript": "ENST00000901563.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 475,
"aa_ref": "K",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1428,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901564.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.775_776delAAinsCG",
"hgvs_p": "p.Lys259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571623.1",
"strand": true,
"transcript": "ENST00000901564.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "K",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": 628,
"cds_end": null,
"cds_length": 664,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000411688.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.493_494delAAinsCG",
"hgvs_p": "p.Lys165Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392671.1",
"strand": true,
"transcript": "ENST00000411688.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901559.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.604-3_604-2delAAinsCG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571618.1",
"strand": true,
"transcript": "ENST00000901559.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": null,
"cds_end": null,
"cds_length": 1398,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901556.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "c.647-244_647-243delAAinsCG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571615.1",
"strand": true,
"transcript": "ENST00000901556.1",
"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": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445971.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.*236_*237delAAinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404945.1",
"strand": true,
"transcript": "ENST00000445971.1",
"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": 1210,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466602.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.723_724delAAinsCG",
"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": "ENST00000466602.1",
"transcript_support_level": 2
},
{
"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": 2566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000494263.5",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.1209_1210delAAinsCG",
"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": "ENST00000494263.5",
"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": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445971.1",
"gene_hgnc_id": 2605,
"gene_symbol": "CYP27A1",
"hgvs_c": "n.*236_*237delAAinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404945.1",
"strand": true,
"transcript": "ENST00000445971.1",
"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": 2605,
"gene_symbol": "CYP27A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
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}
]
}