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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: 1-11972906-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11972906&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLOD1",
"hgnc_id": 9081,
"hgvs_c": "c.2078A>G",
"hgvs_p": "p.Lys693Arg",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001316320.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 7,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0747,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " kyphoscoliotic type 1,Ehlers-Danlos syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24812299013137817,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 727,
"aa_ref": "K",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_000302.4",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1937A>G",
"hgvs_p": "p.Lys646Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000196061.5",
"protein_coding": true,
"protein_id": "NP_000293.2",
"strand": true,
"transcript": "NM_000302.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 727,
"aa_ref": "K",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000196061.5",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1937A>G",
"hgvs_p": "p.Lys646Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000302.4",
"protein_coding": true,
"protein_id": "ENSP00000196061.4",
"strand": true,
"transcript": "ENST00000196061.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 775,
"aa_ref": "K",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2251,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2081,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000854019.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.Lys694Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524078.1",
"strand": true,
"transcript": "ENST00000854019.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 774,
"aa_ref": "K",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2325,
"cds_start": 2078,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001316320.2",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.2078A>G",
"hgvs_p": "p.Lys693Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303249.1",
"strand": true,
"transcript": "NM_001316320.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 756,
"aa_ref": "K",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000854031.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Lys675Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524090.1",
"strand": true,
"transcript": "ENST00000854031.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 756,
"aa_ref": "K",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000854033.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Lys675Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524092.1",
"strand": true,
"transcript": "ENST00000854033.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 740,
"aa_ref": "K",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960558.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1976A>G",
"hgvs_p": "p.Lys659Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630617.1",
"strand": true,
"transcript": "ENST00000960558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 736,
"aa_ref": "K",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854021.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1964A>G",
"hgvs_p": "p.Lys655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524080.1",
"strand": true,
"transcript": "ENST00000854021.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 734,
"aa_ref": "K",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1958,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000934212.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1958A>G",
"hgvs_p": "p.Lys653Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604271.1",
"strand": true,
"transcript": "ENST00000934212.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 726,
"aa_ref": "K",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 2003,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854027.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1934A>G",
"hgvs_p": "p.Lys645Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524086.1",
"strand": true,
"transcript": "ENST00000854027.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "K",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854022.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Lys644Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524081.1",
"strand": true,
"transcript": "ENST00000854022.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "K",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854026.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Lys644Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524085.1",
"strand": true,
"transcript": "ENST00000854026.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "K",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854028.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Lys644Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524087.1",
"strand": true,
"transcript": "ENST00000854028.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 716,
"aa_ref": "K",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854032.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Lys635Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524091.1",
"strand": true,
"transcript": "ENST00000854032.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 714,
"aa_ref": "K",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1941,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000934214.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Lys633Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604273.1",
"strand": true,
"transcript": "ENST00000934214.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 712,
"aa_ref": "K",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854029.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Lys631Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524088.1",
"strand": true,
"transcript": "ENST00000854029.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 702,
"aa_ref": "K",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000854023.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1862A>G",
"hgvs_p": "p.Lys621Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524082.1",
"strand": true,
"transcript": "ENST00000854023.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 693,
"aa_ref": "K",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000854030.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1835A>G",
"hgvs_p": "p.Lys612Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524089.1",
"strand": true,
"transcript": "ENST00000854030.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 692,
"aa_ref": "K",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 2035,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1832,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934210.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1832A>G",
"hgvs_p": "p.Lys611Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604269.1",
"strand": true,
"transcript": "ENST00000934210.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 689,
"aa_ref": "K",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934211.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.1823A>G",
"hgvs_p": "p.Lys608Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604270.1",
"strand": true,
"transcript": "ENST00000934211.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 685,
"aa_ref": "K",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000854024.1",
"gene_hgnc_id": 9081,
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