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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: 1-156624073-GTG-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156624073&ref=GTG&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HAPLN2",
"hgnc_id": 17410,
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021817.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "BCAN-AS2",
"hgnc_id": 56267,
"hgvs_c": "n.273-2123_273-2121delCACinsTAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000848906.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021817.3",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255039.6",
"protein_coding": true,
"protein_id": "NP_068589.1",
"strand": true,
"transcript": "NM_021817.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000255039.6",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021817.3",
"protein_coding": true,
"protein_id": "ENSP00000255039.1",
"strand": true,
"transcript": "ENST00000255039.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "V",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1065,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858239.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.394_396delGTGinsTTA",
"hgvs_p": "p.Val132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528298.1",
"strand": true,
"transcript": "ENST00000858239.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "V",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 643,
"cds_end": null,
"cds_length": 1065,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968562.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.394_396delGTGinsTTA",
"hgvs_p": "p.Val132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638621.1",
"strand": true,
"transcript": "ENST00000968562.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858235.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528294.1",
"strand": true,
"transcript": "ENST00000858235.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858236.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528295.1",
"strand": true,
"transcript": "ENST00000858236.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858237.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528296.1",
"strand": true,
"transcript": "ENST00000858237.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858238.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528297.1",
"strand": true,
"transcript": "ENST00000858238.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858240.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528299.1",
"strand": true,
"transcript": "ENST00000858240.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858241.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528300.1",
"strand": true,
"transcript": "ENST00000858241.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968559.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638618.1",
"strand": true,
"transcript": "ENST00000968559.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968560.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638619.1",
"strand": true,
"transcript": "ENST00000968560.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968561.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638620.1",
"strand": true,
"transcript": "ENST00000968561.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 184,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": 678,
"cds_end": null,
"cds_length": 556,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456112.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388835.1",
"strand": true,
"transcript": "ENST00000456112.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509853.3",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508155.1",
"strand": true,
"transcript": "XM_011509853.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1023,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002020.2",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.352_354delGTGinsTTA",
"hgvs_p": "p.Val118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857509.1",
"strand": true,
"transcript": "XM_017002020.2",
"transcript_support_level": null
},
{
"aa_alt": "LT",
"aa_end": null,
"aa_length": 191,
"aa_ref": "RA",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": 611,
"cds_end": null,
"cds_length": 576,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427123.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "c.485_487delGTGinsTTA",
"hgvs_p": "p.ArgAla162LeuThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283079.1",
"strand": true,
"transcript": "XM_047427123.1",
"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": 1022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000494218.1",
"gene_hgnc_id": 17410,
"gene_symbol": "HAPLN2",
"hgvs_c": "n.10_12delGTGinsTTA",
"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": "ENST00000494218.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"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": "ENST00000848906.1",
"gene_hgnc_id": 56267,
"gene_symbol": "BCAN-AS2",
"hgvs_c": "n.273-2123_273-2121delCACinsTAA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000848906.1",
"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": 662,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000848907.1",
"gene_hgnc_id": 56267,
"gene_symbol": "BCAN-AS2",
"hgvs_c": "n.251+914_251+916delCACinsTAA",
"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": "ENST00000848907.1",
"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": 741,
"cdna_start": null,
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