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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: 4-1814441-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1814441&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1814441,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012318.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2203G>T",
"hgvs_p": "p.Ala735Ser",
"transcript": "NM_012318.3",
"protein_id": "NP_036450.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 739,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302787.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012318.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2203G>T",
"hgvs_p": "p.Ala735Ser",
"transcript": "ENST00000302787.3",
"protein_id": "ENSP00000305653.2",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 739,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012318.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302787.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2620G>T",
"hgvs_p": "p.Ala874Ser",
"transcript": "ENST00000872452.1",
"protein_id": "ENSP00000542511.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 878,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872452.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2221G>T",
"hgvs_p": "p.Ala741Ser",
"transcript": "ENST00000872451.1",
"protein_id": "ENSP00000542510.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 745,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872451.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Ala734Ser",
"transcript": "ENST00000872446.1",
"protein_id": "ENSP00000542505.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872446.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Ala734Ser",
"transcript": "ENST00000917095.1",
"protein_id": "ENSP00000587154.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917095.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Ala734Ser",
"transcript": "ENST00000957530.1",
"protein_id": "ENSP00000627589.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957530.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2197G>T",
"hgvs_p": "p.Ala733Ser",
"transcript": "ENST00000957532.1",
"protein_id": "ENSP00000627591.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 737,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957532.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2197G>T",
"hgvs_p": "p.Ala733Ser",
"transcript": "ENST00000957534.1",
"protein_id": "ENSP00000627593.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 737,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957534.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2194G>T",
"hgvs_p": "p.Ala732Ser",
"transcript": "ENST00000872448.1",
"protein_id": "ENSP00000542507.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 736,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872448.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2194G>T",
"hgvs_p": "p.Ala732Ser",
"transcript": "ENST00000872450.1",
"protein_id": "ENSP00000542509.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 736,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872450.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Ala714Ser",
"transcript": "ENST00000872454.1",
"protein_id": "ENSP00000542513.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 718,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872454.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2071G>T",
"hgvs_p": "p.Ala691Ser",
"transcript": "ENST00000872453.1",
"protein_id": "ENSP00000542512.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 695,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872453.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Ala689Ser",
"transcript": "ENST00000872449.1",
"protein_id": "ENSP00000542508.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 693,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872449.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2002G>T",
"hgvs_p": "p.Ala668Ser",
"transcript": "ENST00000957533.1",
"protein_id": "ENSP00000627592.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 672,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957533.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1999G>T",
"hgvs_p": "p.Ala667Ser",
"transcript": "ENST00000872447.1",
"protein_id": "ENSP00000542506.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 671,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872447.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1996G>T",
"hgvs_p": "p.Ala666Ser",
"transcript": "ENST00000957531.1",
"protein_id": "ENSP00000627590.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 670,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957531.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1861G>T",
"hgvs_p": "p.Ala621Ser",
"transcript": "ENST00000957529.1",
"protein_id": "ENSP00000627588.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 625,
"cds_start": 1861,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957529.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Ala734Ser",
"transcript": "XM_006713884.2",
"protein_id": "XP_006713947.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713884.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"hgvs_c": "c.1660G>T",
"hgvs_p": "p.Ala554Ser",
"transcript": "XM_047415673.1",
"protein_id": "XP_047271629.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 558,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415673.1"
}
],
"gene_symbol": "LETM1",
"gene_hgnc_id": 6556,
"dbsnp": "rs762737209",
"frequency_reference_population": 0.000002736255,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273626,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12964752316474915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0857,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.899,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012318.3",
"gene_symbol": "LETM1",
"hgnc_id": 6556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2203G>T",
"hgvs_p": "p.Ala735Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}