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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: 17-75743736-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75743736&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"inheritance_mode": "Unknown,AR,AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000213.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "17",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Junctional epidermolysis bullosa with pyloric atresia",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 5469,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000213.5",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000200181.8",
"protein_coding": true,
"protein_id": "NP_000204.3",
"strand": true,
"transcript": "NM_000213.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 5469,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000200181.8",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000213.5",
"protein_coding": true,
"protein_id": "ENSP00000200181.3",
"strand": true,
"transcript": "ENST00000200181.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5845,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 5418,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000449880.7",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400217.2",
"strand": true,
"transcript": "ENST00000449880.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5645,
"cdna_start": 3112,
"cds_end": null,
"cds_length": 5259,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000450894.7",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405536.3",
"strand": true,
"transcript": "ENST00000450894.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5554,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 5259,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000579662.5",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463651.1",
"strand": true,
"transcript": "ENST00000579662.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1875,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6112,
"cdna_start": 3207,
"cds_end": null,
"cds_length": 5628,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864029.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534088.1",
"strand": true,
"transcript": "ENST00000864029.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1875,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6156,
"cdna_start": 3251,
"cds_end": null,
"cds_length": 5628,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864030.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534089.1",
"strand": true,
"transcript": "ENST00000864030.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1860,
"aa_ref": "Q",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6100,
"cdna_start": 3405,
"cds_end": null,
"cds_length": 5583,
"cds_start": 3151,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000948792.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Gln1051*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618851.1",
"strand": true,
"transcript": "ENST00000948792.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "Q",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6031,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 5505,
"cds_start": 3073,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000864031.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.3073C>T",
"hgvs_p": "p.Gln1025*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534090.1",
"strand": true,
"transcript": "ENST00000864031.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "Q",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6034,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 5505,
"cds_start": 3073,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000948787.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.3073C>T",
"hgvs_p": "p.Gln1025*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618846.1",
"strand": true,
"transcript": "ENST00000948787.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5976,
"cdna_start": 3227,
"cds_end": null,
"cds_length": 5469,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864028.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534087.1",
"strand": true,
"transcript": "ENST00000864028.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5936,
"cdna_start": 3195,
"cds_end": null,
"cds_length": 5469,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864039.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534098.1",
"strand": true,
"transcript": "ENST00000864039.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1821,
"aa_ref": "Q",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5847,
"cdna_start": 3099,
"cds_end": null,
"cds_length": 5466,
"cds_start": 2983,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000948791.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2983C>T",
"hgvs_p": "p.Gln995*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618850.1",
"strand": true,
"transcript": "ENST00000948791.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1814,
"aa_ref": "Q",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5987,
"cdna_start": 3298,
"cds_end": null,
"cds_length": 5445,
"cds_start": 3013,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000948790.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.3013C>T",
"hgvs_p": "p.Gln1005*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618849.1",
"strand": true,
"transcript": "ENST00000948790.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "Q",
"aa_start": 1052,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 3295,
"cds_end": null,
"cds_length": 5427,
"cds_start": 3154,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864040.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.3154C>T",
"hgvs_p": "p.Gln1052*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534099.1",
"strand": true,
"transcript": "ENST00000864040.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5845,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 5418,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001005619.2",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005619.1",
"strand": true,
"transcript": "NM_001005619.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5995,
"cdna_start": 3297,
"cds_end": null,
"cds_length": 5418,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864027.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534086.1",
"strand": true,
"transcript": "ENST00000864027.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5763,
"cdna_start": 3070,
"cds_end": null,
"cds_length": 5418,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000864041.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534100.1",
"strand": true,
"transcript": "ENST00000864041.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 3052,
"cds_end": null,
"cds_length": 5418,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000948785.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618844.1",
"strand": true,
"transcript": "ENST00000948785.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1805,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 4134,
"cds_end": null,
"cds_length": 5418,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000948793.1",
"gene_hgnc_id": 6158,
"gene_symbol": "ITGB4",
"hgvs_c": "c.2986C>T",
"hgvs_p": "p.Gln996*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618852.1",
"strand": true,
"transcript": "ENST00000948793.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "Q",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": 3051,
"cds_end": null,
"cds_length": 5397,
"cds_start": 2986,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 26,
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