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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: 5-78489098-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=78489098&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LHFPL2",
"hgnc_id": 6588,
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_005779.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.9372,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7824035882949829,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4977,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005779.3",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380345.7",
"protein_coding": true,
"protein_id": "NP_005770.1",
"strand": false,
"transcript": "NM_005779.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4977,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000380345.7",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005779.3",
"protein_coding": true,
"protein_id": "ENSP00000369702.2",
"strand": false,
"transcript": "ENST00000380345.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 797,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515007.6",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425906.1",
"strand": false,
"transcript": "ENST00000515007.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5115,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872133.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542192.1",
"strand": false,
"transcript": "ENST00000872133.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5234,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000872134.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542193.1",
"strand": false,
"transcript": "ENST00000872134.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872135.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542194.1",
"strand": false,
"transcript": "ENST00000872135.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5770,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872136.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542195.1",
"strand": false,
"transcript": "ENST00000872136.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872137.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542196.1",
"strand": false,
"transcript": "ENST00000872137.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872138.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542197.1",
"strand": false,
"transcript": "ENST00000872138.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 858,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872139.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542198.1",
"strand": false,
"transcript": "ENST00000872139.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 982,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872140.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542199.1",
"strand": false,
"transcript": "ENST00000872140.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 856,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872141.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542200.1",
"strand": false,
"transcript": "ENST00000872141.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 228,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4777,
"cdna_start": 910,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930172.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600231.1",
"strand": false,
"transcript": "ENST00000930172.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5188,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930173.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600232.1",
"strand": false,
"transcript": "ENST00000930173.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 228,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5102,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930174.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600233.1",
"strand": false,
"transcript": "ENST00000930174.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930175.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600234.1",
"strand": false,
"transcript": "ENST00000930175.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5210,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930176.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600235.1",
"strand": false,
"transcript": "ENST00000930176.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 228,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930177.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600236.1",
"strand": false,
"transcript": "ENST00000930177.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930178.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600237.1",
"strand": false,
"transcript": "ENST00000930178.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5199,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930179.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600238.1",
"strand": false,
"transcript": "ENST00000930179.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 228,
"aa_ref": "K",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 687,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930180.1",
"gene_hgnc_id": 6588,
"gene_symbol": "LHFPL2",
"hgvs_c": "c.486G>T",
"hgvs_p": "p.Lys162Asn",
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