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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: 4-1815739-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1815739&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1815739,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012318.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1995A>C",
"hgvs_p": "p.Glu665Asp",
"transcript": "NM_012318.3",
"protein_id": "NP_036450.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 739,
"cds_start": 1995,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": "ENST00000302787.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012318.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1995A>C",
"hgvs_p": "p.Glu665Asp",
"transcript": "ENST00000302787.3",
"protein_id": "ENSP00000305653.2",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 739,
"cds_start": 1995,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": "NM_012318.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302787.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2412A>C",
"hgvs_p": "p.Glu804Asp",
"transcript": "ENST00000872452.1",
"protein_id": "ENSP00000542511.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 878,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872452.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2013A>C",
"hgvs_p": "p.Glu671Asp",
"transcript": "ENST00000872451.1",
"protein_id": "ENSP00000542510.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 745,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872451.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1992A>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "ENST00000872446.1",
"protein_id": "ENSP00000542505.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 738,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872446.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1992A>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "ENST00000917095.1",
"protein_id": "ENSP00000587154.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 738,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917095.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1992A>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "ENST00000957530.1",
"protein_id": "ENSP00000627589.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 738,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957530.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1989A>C",
"hgvs_p": "p.Glu663Asp",
"transcript": "ENST00000957532.1",
"protein_id": "ENSP00000627591.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 737,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957532.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1989A>C",
"hgvs_p": "p.Glu663Asp",
"transcript": "ENST00000957534.1",
"protein_id": "ENSP00000627593.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 737,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957534.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1986A>C",
"hgvs_p": "p.Glu662Asp",
"transcript": "ENST00000872448.1",
"protein_id": "ENSP00000542507.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 736,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872448.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1986A>C",
"hgvs_p": "p.Glu662Asp",
"transcript": "ENST00000872450.1",
"protein_id": "ENSP00000542509.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 736,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872450.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1932A>C",
"hgvs_p": "p.Glu644Asp",
"transcript": "ENST00000872454.1",
"protein_id": "ENSP00000542513.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 718,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872454.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1863A>C",
"hgvs_p": "p.Glu621Asp",
"transcript": "ENST00000872453.1",
"protein_id": "ENSP00000542512.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 695,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872453.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1857A>C",
"hgvs_p": "p.Glu619Asp",
"transcript": "ENST00000872449.1",
"protein_id": "ENSP00000542508.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 693,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872449.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1794A>C",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000957533.1",
"protein_id": "ENSP00000627592.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 672,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957533.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1791A>C",
"hgvs_p": "p.Glu597Asp",
"transcript": "ENST00000872447.1",
"protein_id": "ENSP00000542506.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 671,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872447.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1788A>C",
"hgvs_p": "p.Glu596Asp",
"transcript": "ENST00000957531.1",
"protein_id": "ENSP00000627590.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 670,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957531.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1653A>C",
"hgvs_p": "p.Glu551Asp",
"transcript": "ENST00000957529.1",
"protein_id": "ENSP00000627588.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 625,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957529.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1992A>C",
"hgvs_p": "p.Glu664Asp",
"transcript": "XM_006713884.2",
"protein_id": "XP_006713947.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 738,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713884.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1452A>C",
"hgvs_p": "p.Glu484Asp",
"transcript": "XM_047415673.1",
"protein_id": "XP_047271629.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 558,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 4853,
"cdna_end": null,
"cdna_length": 8023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415673.1"
}
],
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"dbsnp": "rs112919287",
"frequency_reference_population": 0.000813407,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1313,
"gnomad_exomes_af": 0.000440532,
"gnomad_genomes_af": 0.00439184,
"gnomad_exomes_ac": 644,
"gnomad_genomes_ac": 669,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005457282066345215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.1439,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.204,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012318.3",
"gene_symbol": "LETM1",
"hgnc_id": 6556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1995A>C",
"hgvs_p": "p.Glu665Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}