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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: 11-65539080-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65539080&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4",
"PP5_Moderate"
],
"effects": [
"stop_lost"
],
"gene_symbol": "LTBP3",
"hgnc_id": 6716,
"hgvs_c": "c.3912A>T",
"hgvs_p": "p.Ter1304Cysext*?",
"inheritance_mode": "AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001130144.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM4,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Geleophysic dysplasia 3",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.10000000149011612,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "*",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 4312,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3912,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001130144.3",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3912A>T",
"hgvs_p": "p.Ter1304Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301873.11",
"protein_coding": true,
"protein_id": "NP_001123616.1",
"strand": false,
"transcript": "NM_001130144.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "*",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 4312,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3912,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000301873.11",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3912A>T",
"hgvs_p": "p.Ter1304Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130144.3",
"protein_coding": true,
"protein_id": "ENSP00000301873.5",
"strand": false,
"transcript": "ENST00000301873.11",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "*",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4046,
"cdna_start": 3771,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3771,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000322147.8",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3771A>T",
"hgvs_p": "p.Ter1257Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326647.4",
"strand": false,
"transcript": "ENST00000322147.8",
"transcript_support_level": 1
},
{
"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": 3935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000528516.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*3416A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432350.1",
"strand": false,
"transcript": "ENST00000528516.5",
"transcript_support_level": 1
},
{
"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": 3935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000528516.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*3416A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432350.1",
"strand": false,
"transcript": "ENST00000528516.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "*",
"aa_start": 1313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4540,
"cdna_start": 4278,
"cds_end": null,
"cds_length": 3939,
"cds_start": 3939,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000971648.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3939A>T",
"hgvs_p": "p.Ter1313Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641707.1",
"strand": false,
"transcript": "ENST00000971648.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "*",
"aa_start": 1303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 4312,
"cds_end": null,
"cds_length": 3909,
"cds_start": 3909,
"consequences": [
"stop_lost"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000971647.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3909A>T",
"hgvs_p": "p.Ter1303Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641706.1",
"strand": false,
"transcript": "ENST00000971647.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "*",
"aa_start": 1274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 4063,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3822,
"consequences": [
"stop_lost"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000971650.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3822A>T",
"hgvs_p": "p.Ter1274Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641709.1",
"strand": false,
"transcript": "ENST00000971650.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "*",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 4189,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3789,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000689505.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3789A>T",
"hgvs_p": "p.Ter1263Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510401.1",
"strand": false,
"transcript": "ENST00000689505.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "*",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 4128,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3789,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000971646.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3789A>T",
"hgvs_p": "p.Ter1263Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641705.1",
"strand": false,
"transcript": "ENST00000971646.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "*",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 4122,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3789,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000971649.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3789A>T",
"hgvs_p": "p.Ter1263Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641708.1",
"strand": false,
"transcript": "ENST00000971649.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "*",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 4040,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3771,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_021070.4",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3771A>T",
"hgvs_p": "p.Ter1257Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066548.2",
"strand": false,
"transcript": "NM_021070.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "*",
"aa_start": 1215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 3991,
"cds_end": null,
"cds_length": 3645,
"cds_start": 3645,
"consequences": [
"stop_lost"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000530866.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3645A>T",
"hgvs_p": "p.Ter1215Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435276.2",
"strand": false,
"transcript": "ENST00000530866.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "*",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 4036,
"cds_end": null,
"cds_length": 3420,
"cds_start": 3420,
"consequences": [
"stop_lost"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001164266.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3420A>T",
"hgvs_p": "p.Ter1140Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157738.1",
"strand": false,
"transcript": "NM_001164266.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 971,
"aa_ref": "*",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2916,
"consequences": [
"stop_lost"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000526927.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.2916A>T",
"hgvs_p": "p.Ter972Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431219.2",
"strand": false,
"transcript": "ENST00000526927.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 259,
"aa_ref": "*",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": 863,
"cds_end": null,
"cds_length": 780,
"cds_start": 780,
"consequences": [
"stop_lost",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000532661.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.780A>T",
"hgvs_p": "p.Ter260Cysext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436341.2",
"strand": false,
"transcript": "ENST00000532661.6",
"transcript_support_level": 3
},
{
"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": 4498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000526825.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*3175A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435146.2",
"strand": false,
"transcript": "ENST00000526825.6",
"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": 1997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000529189.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.1736A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529189.5",
"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": 2464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000529582.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.1954A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529582.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000530785.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.2200A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000530785.5",
"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": 3327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000532932.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
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]
}