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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: 11-66519725-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66519725&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "BBS1",
"hgnc_id": 966,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_024649.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ENSG00000256349",
"hgnc_id": null,
"hgvs_c": "c.811G>T",
"hgvs_p": "p.Glu271*",
"inheritance_mode": "",
"pathogenic_score": 12,
"score": 12,
"transcript": "ENST00000419755.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000286688",
"hgnc_id": null,
"hgvs_c": "n.-5C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000658548.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "11",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Bardet-Biedl syndrome 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1782,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_024649.5",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318312.12",
"protein_coding": true,
"protein_id": "NP_078925.3",
"strand": true,
"transcript": "NM_024649.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1782,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000318312.12",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024649.5",
"protein_coding": true,
"protein_id": "ENSP00000317469.7",
"strand": true,
"transcript": "ENST00000318312.12",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 630,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1893,
"cds_start": 811,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000419755.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256349",
"hgvs_c": "c.811G>T",
"hgvs_p": "p.Glu271*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398526.3",
"strand": true,
"transcript": "ENST00000419755.3",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 446,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1341,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393994.4",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377563.2",
"strand": true,
"transcript": "ENST00000393994.4",
"transcript_support_level": 1
},
{
"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": 3437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000529955.5",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "n.671G>T",
"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": "ENST00000529955.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 635,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1908,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851739.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521798.1",
"strand": true,
"transcript": "ENST00000851739.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 600,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1803,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851731.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521790.1",
"strand": true,
"transcript": "ENST00000851731.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 597,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1794,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851734.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521793.1",
"strand": true,
"transcript": "ENST00000851734.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 591,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1776,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967329.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637388.1",
"strand": true,
"transcript": "ENST00000967329.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 590,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1773,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851740.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521799.1",
"strand": true,
"transcript": "ENST00000851740.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 585,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1758,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851743.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521802.1",
"strand": true,
"transcript": "ENST00000851743.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 583,
"aa_ref": "E",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1752,
"cds_start": 670,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851741.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.670G>T",
"hgvs_p": "p.Glu224*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521800.1",
"strand": true,
"transcript": "ENST00000851741.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 580,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1743,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967330.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637389.1",
"strand": true,
"transcript": "ENST00000967330.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 578,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1737,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933609.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603668.1",
"strand": true,
"transcript": "ENST00000933609.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 576,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1731,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851738.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521797.1",
"strand": true,
"transcript": "ENST00000851738.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 573,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1722,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851730.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521789.1",
"strand": true,
"transcript": "ENST00000851730.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 548,
"aa_ref": "E",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1647,
"cds_start": 565,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851737.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Glu189*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521796.1",
"strand": true,
"transcript": "ENST00000851737.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1395,
"cds_start": 700,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851733.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Glu234*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521792.1",
"strand": true,
"transcript": "ENST00000851733.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 191,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 601,
"cdna_start": 451,
"cds_end": null,
"cds_length": 577,
"cds_start": 427,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000525809.5",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Glu143*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431187.1",
"strand": true,
"transcript": "ENST00000525809.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": null,
"cds_end": null,
"cds_length": 1650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851735.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.592-1545G>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}