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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: 3-155906242-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155906242&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155906242,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003875.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_003875.3",
"protein_id": "NP_003866.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 693,
"cds_start": 505,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000496455.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003875.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000496455.7",
"protein_id": "ENSP00000419851.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 693,
"cds_start": 505,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003875.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496455.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000928984.1",
"protein_id": "ENSP00000599043.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 695,
"cds_start": 505,
"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": "ENST00000928984.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000967990.1",
"protein_id": "ENSP00000638049.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 693,
"cds_start": 505,
"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": "ENST00000967990.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000928985.1",
"protein_id": "ENSP00000599044.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 691,
"cds_start": 505,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928985.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000852009.1",
"protein_id": "ENSP00000522068.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 689,
"cds_start": 505,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852009.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000852012.1",
"protein_id": "ENSP00000522071.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 687,
"cds_start": 505,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852012.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Arg147Cys",
"transcript": "ENST00000967991.1",
"protein_id": "ENSP00000638050.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 671,
"cds_start": 439,
"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": "ENST00000967991.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "ENST00000852011.1",
"protein_id": "ENSP00000522070.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 659,
"cds_start": 403,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852011.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000852010.1",
"protein_id": "ENSP00000522069.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 658,
"cds_start": 505,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852010.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000967993.1",
"protein_id": "ENSP00000638052.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 635,
"cds_start": 505,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967993.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000295920.7",
"protein_id": "ENSP00000295920.7",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 594,
"cds_start": 208,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295920.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000967992.1",
"protein_id": "ENSP00000638051.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 573,
"cds_start": 505,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967992.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"transcript": "XM_011513263.3",
"protein_id": "XP_011511565.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 699,
"cds_start": 523,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513263.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "XM_017007422.2",
"protein_id": "XP_016862911.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 686,
"cds_start": 484,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007422.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "XM_047449144.1",
"protein_id": "XP_047305100.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 686,
"cds_start": 484,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449144.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "XM_047449145.1",
"protein_id": "XP_047305101.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 686,
"cds_start": 484,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449145.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Cys",
"transcript": "XM_047449146.1",
"protein_id": "XP_047305102.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 587,
"cds_start": 187,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "ENST00000476145.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476145.1"
}
],
"gene_symbol": "GMPS",
"gene_hgnc_id": 4378,
"dbsnp": "rs746381540",
"frequency_reference_population": 0.0000043523787,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000412023,
"gnomad_genomes_af": 0.00000657514,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45294389128685,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.59,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1002,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.663,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003875.3",
"gene_symbol": "GMPS",
"hgnc_id": 4378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}