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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: 4-1814554-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1814554&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1814554,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012318.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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.2090A>G",
"hgvs_p": "p.Lys697Arg",
"transcript": "NM_012318.3",
"protein_id": "NP_036450.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 739,
"cds_start": 2090,
"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": "K",
"aa_alt": "R",
"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.2090A>G",
"hgvs_p": "p.Lys697Arg",
"transcript": "ENST00000302787.3",
"protein_id": "ENSP00000305653.2",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 739,
"cds_start": 2090,
"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": "K",
"aa_alt": "R",
"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.2507A>G",
"hgvs_p": "p.Lys836Arg",
"transcript": "ENST00000872452.1",
"protein_id": "ENSP00000542511.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 878,
"cds_start": 2507,
"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": "K",
"aa_alt": "R",
"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.2108A>G",
"hgvs_p": "p.Lys703Arg",
"transcript": "ENST00000872451.1",
"protein_id": "ENSP00000542510.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 745,
"cds_start": 2108,
"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": "K",
"aa_alt": "R",
"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.2087A>G",
"hgvs_p": "p.Lys696Arg",
"transcript": "ENST00000872446.1",
"protein_id": "ENSP00000542505.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 738,
"cds_start": 2087,
"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": "K",
"aa_alt": "R",
"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.2087A>G",
"hgvs_p": "p.Lys696Arg",
"transcript": "ENST00000917095.1",
"protein_id": "ENSP00000587154.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 738,
"cds_start": 2087,
"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": "K",
"aa_alt": "R",
"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.2087A>G",
"hgvs_p": "p.Lys696Arg",
"transcript": "ENST00000957530.1",
"protein_id": "ENSP00000627589.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 738,
"cds_start": 2087,
"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": "K",
"aa_alt": "R",
"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.2084A>G",
"hgvs_p": "p.Lys695Arg",
"transcript": "ENST00000957532.1",
"protein_id": "ENSP00000627591.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 737,
"cds_start": 2084,
"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": "K",
"aa_alt": "R",
"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.2084A>G",
"hgvs_p": "p.Lys695Arg",
"transcript": "ENST00000957534.1",
"protein_id": "ENSP00000627593.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 737,
"cds_start": 2084,
"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": "K",
"aa_alt": "R",
"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.2081A>G",
"hgvs_p": "p.Lys694Arg",
"transcript": "ENST00000872448.1",
"protein_id": "ENSP00000542507.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 736,
"cds_start": 2081,
"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": "K",
"aa_alt": "R",
"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.2081A>G",
"hgvs_p": "p.Lys694Arg",
"transcript": "ENST00000872450.1",
"protein_id": "ENSP00000542509.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 736,
"cds_start": 2081,
"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": "K",
"aa_alt": "R",
"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.2027A>G",
"hgvs_p": "p.Lys676Arg",
"transcript": "ENST00000872454.1",
"protein_id": "ENSP00000542513.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 718,
"cds_start": 2027,
"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": "K",
"aa_alt": "R",
"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.1958A>G",
"hgvs_p": "p.Lys653Arg",
"transcript": "ENST00000872453.1",
"protein_id": "ENSP00000542512.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 695,
"cds_start": 1958,
"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": "K",
"aa_alt": "R",
"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.1952A>G",
"hgvs_p": "p.Lys651Arg",
"transcript": "ENST00000872449.1",
"protein_id": "ENSP00000542508.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 693,
"cds_start": 1952,
"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": "K",
"aa_alt": "R",
"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.1889A>G",
"hgvs_p": "p.Lys630Arg",
"transcript": "ENST00000957533.1",
"protein_id": "ENSP00000627592.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 672,
"cds_start": 1889,
"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": "K",
"aa_alt": "R",
"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.1886A>G",
"hgvs_p": "p.Lys629Arg",
"transcript": "ENST00000872447.1",
"protein_id": "ENSP00000542506.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 671,
"cds_start": 1886,
"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": "K",
"aa_alt": "R",
"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.1883A>G",
"hgvs_p": "p.Lys628Arg",
"transcript": "ENST00000957531.1",
"protein_id": "ENSP00000627590.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 670,
"cds_start": 1883,
"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": "K",
"aa_alt": "R",
"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.1748A>G",
"hgvs_p": "p.Lys583Arg",
"transcript": "ENST00000957529.1",
"protein_id": "ENSP00000627588.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 625,
"cds_start": 1748,
"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": "K",
"aa_alt": "R",
"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.2087A>G",
"hgvs_p": "p.Lys696Arg",
"transcript": "XM_006713884.2",
"protein_id": "XP_006713947.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 738,
"cds_start": 2087,
"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": "K",
"aa_alt": "R",
"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.1547A>G",
"hgvs_p": "p.Lys516Arg",
"transcript": "XM_047415673.1",
"protein_id": "XP_047271629.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 558,
"cds_start": 1547,
"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": "rs141679322",
"frequency_reference_population": 0.0007566903,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1221,
"gnomad_exomes_af": 0.000401034,
"gnomad_genomes_af": 0.00416716,
"gnomad_exomes_ac": 586,
"gnomad_genomes_ac": 635,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0075158774852752686,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1001,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.477,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012318.3",
"gene_symbol": "LETM1",
"hgnc_id": 6556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.Lys697Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}