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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: 10-101526143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101526143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BTRC",
"hgnc_id": 1144,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Ile229Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_033637.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 113470,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "BTRC-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 605,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1818,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_033637.4",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Ile229Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370187.8",
"protein_coding": true,
"protein_id": "NP_378663.1",
"strand": true,
"transcript": "NM_033637.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 605,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1818,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000370187.8",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Ile229Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033637.4",
"protein_coding": true,
"protein_id": "ENSP00000359206.3",
"strand": true,
"transcript": "ENST00000370187.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 579,
"aa_ref": "I",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6084,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1740,
"cds_start": 609,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393441.8",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.609C>T",
"hgvs_p": "p.Ile203Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377088.5",
"strand": true,
"transcript": "ENST00000393441.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 569,
"aa_ref": "I",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5982,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1710,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000408038.6",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Ile193Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385339.2",
"strand": true,
"transcript": "ENST00000408038.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 636,
"aa_ref": "I",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6201,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1911,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861880.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.780C>T",
"hgvs_p": "p.Ile260Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531939.1",
"strand": true,
"transcript": "ENST00000861880.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 626,
"aa_ref": "I",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1881,
"cds_start": 750,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953682.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Ile250Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623741.1",
"strand": true,
"transcript": "ENST00000953682.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 610,
"aa_ref": "I",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6091,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1833,
"cds_start": 702,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861881.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.702C>T",
"hgvs_p": "p.Ile234Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531940.1",
"strand": true,
"transcript": "ENST00000861881.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 600,
"aa_ref": "I",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6102,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1803,
"cds_start": 672,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861879.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Ile224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531938.1",
"strand": true,
"transcript": "ENST00000861879.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 579,
"aa_ref": "I",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1740,
"cds_start": 609,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256856.2",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.609C>T",
"hgvs_p": "p.Ile203Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243785.1",
"strand": true,
"transcript": "NM_001256856.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "I",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1728,
"cds_start": 597,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861883.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ile199Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531942.1",
"strand": true,
"transcript": "ENST00000861883.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 574,
"aa_ref": "I",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1725,
"cds_start": 594,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924128.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Ile198Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594187.1",
"strand": true,
"transcript": "ENST00000924128.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 569,
"aa_ref": "I",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5916,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1710,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003939.5",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Ile193Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003930.1",
"strand": true,
"transcript": "NM_003939.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 543,
"aa_ref": "I",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1632,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861882.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Ile167Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531941.1",
"strand": true,
"transcript": "ENST00000861882.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 732,
"aa_ref": "I",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6405,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1068,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006718054.3",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.1068C>T",
"hgvs_p": "p.Ile356Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718117.1",
"strand": true,
"transcript": "XM_006718054.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 706,
"aa_ref": "I",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2121,
"cds_start": 990,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017016870.2",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.990C>T",
"hgvs_p": "p.Ile330Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872359.1",
"strand": true,
"transcript": "XM_017016870.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "I",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6047,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1764,
"cds_start": 633,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017016871.2",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872360.1",
"strand": true,
"transcript": "XM_017016871.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 587,
"aa_ref": "I",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6075,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1764,
"cds_start": 633,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017016873.3",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872362.1",
"strand": true,
"transcript": "XM_017016873.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 561,
"aa_ref": "I",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1686,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047425983.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Ile185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281939.1",
"strand": true,
"transcript": "XM_047425983.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 561,
"aa_ref": "I",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5991,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1686,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047425984.1",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Ile185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281940.1",
"strand": true,
"transcript": "XM_047425984.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 543,
"aa_ref": "I",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5838,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1632,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017016874.2",
"gene_hgnc_id": 1144,
"gene_symbol": "BTRC",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Ile167Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872363.1",
"strand": true,
"transcript": "XM_017016874.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 537,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1614,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011540320.3",
"gene_hgnc_id": 1144,
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