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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: 7-43311854-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43311854&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 43311854,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015052.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "NM_015052.5",
"protein_id": "NP_055867.3",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 1606,
"cds_start": 119,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": "ENST00000395891.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "ENST00000395891.7",
"protein_id": "ENSP00000379228.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 1606,
"cds_start": 119,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": "NM_015052.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "NM_001287059.2",
"protein_id": "NP_001273988.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 1572,
"cds_start": 119,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 9116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "ENST00000453890.5",
"protein_id": "ENSP00000407774.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 1572,
"cds_start": 119,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.215G>C",
"hgvs_p": "p.Arg72Pro",
"transcript": "XM_017011882.2",
"protein_id": "XP_016867371.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1639,
"cds_start": 215,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.215G>C",
"hgvs_p": "p.Arg72Pro",
"transcript": "XM_017011883.3",
"protein_id": "XP_016867372.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1639,
"cds_start": 215,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 9398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.215G>C",
"hgvs_p": "p.Arg72Pro",
"transcript": "XM_017011884.2",
"protein_id": "XP_016867373.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1638,
"cds_start": 215,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_006715670.4",
"protein_id": "XP_006715733.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1608,
"cds_start": 122,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_006715671.4",
"protein_id": "XP_006715734.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1607,
"cds_start": 122,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "XM_011515220.3",
"protein_id": "XP_011513522.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 1607,
"cds_start": 119,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 9075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "XM_047420064.1",
"protein_id": "XP_047276020.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 1607,
"cds_start": 119,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 9000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "XM_047420065.1",
"protein_id": "XP_047276021.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 1606,
"cds_start": 119,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 9072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.215G>C",
"hgvs_p": "p.Arg72Pro",
"transcript": "XM_017011887.2",
"protein_id": "XP_016867376.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1605,
"cds_start": 215,
"cds_end": null,
"cds_length": 4818,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.215G>C",
"hgvs_p": "p.Arg72Pro",
"transcript": "XM_017011888.2",
"protein_id": "XP_016867377.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Arg19Pro",
"transcript": "XM_011515222.3",
"protein_id": "XP_011513524.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1586,
"cds_start": 56,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 440,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Arg19Pro",
"transcript": "XM_011515223.3",
"protein_id": "XP_011513525.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Arg19Pro",
"transcript": "XM_011515224.3",
"protein_id": "XP_011513526.1",
"transcript_support_level": null,
"aa_start": 19,
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"cdna_start": 704,
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"cdna_length": 9484,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Arg19Pro",
"transcript": "XM_047420066.1",
"protein_id": "XP_047276022.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 1585,
"cds_start": 56,
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"cds_length": 4758,
"cdna_start": 236,
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"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_006715673.4",
"protein_id": "XP_006715736.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.435G>C",
"hgvs_p": null,
"transcript": "ENST00000464944.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.401G>C",
"hgvs_p": null,
"transcript": "ENST00000490954.2",
"protein_id": null,
"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.743G>C",
"hgvs_p": null,
"transcript": "ENST00000492310.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2186,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"dbsnp": "rs774856233",
"frequency_reference_population": 0.0000020521493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7865889072418213,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.343,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8187,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.449,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015052.5",
"gene_symbol": "HECW1",
"hgnc_id": 22195,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro"
}
],
"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
}