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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: 2-195740791-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=195740791&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 195740791,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018897.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.11843A>G",
"hgvs_p": "p.Lys3948Arg",
"transcript": "NM_018897.3",
"protein_id": "NP_061720.2",
"transcript_support_level": null,
"aa_start": 3948,
"aa_end": null,
"aa_length": 4024,
"cds_start": 11843,
"cds_end": null,
"cds_length": 12075,
"cdna_start": 11969,
"cdna_end": null,
"cdna_length": 12419,
"mane_select": "ENST00000312428.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018897.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.11843A>G",
"hgvs_p": "p.Lys3948Arg",
"transcript": "ENST00000312428.11",
"protein_id": "ENSP00000311273.6",
"transcript_support_level": 1,
"aa_start": 3948,
"aa_end": null,
"aa_length": 4024,
"cds_start": 11843,
"cds_end": null,
"cds_length": 12075,
"cdna_start": 11969,
"cdna_end": null,
"cdna_length": 12419,
"mane_select": "NM_018897.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312428.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Lys431Arg",
"transcript": "ENST00000409063.5",
"protein_id": "ENSP00000386912.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409063.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Lys49Glu",
"transcript": "ENST00000438565.1",
"protein_id": "ENSP00000409732.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 56,
"cds_start": 145,
"cds_end": null,
"cds_length": 171,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438565.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.11723A>G",
"hgvs_p": "p.Lys3908Arg",
"transcript": "XM_011511488.4",
"protein_id": "XP_011509790.1",
"transcript_support_level": null,
"aa_start": 3908,
"aa_end": null,
"aa_length": 3984,
"cds_start": 11723,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 11849,
"cdna_end": null,
"cdna_length": 12299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511488.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.11705A>G",
"hgvs_p": "p.Lys3902Arg",
"transcript": "XM_011511489.3",
"protein_id": "XP_011509791.1",
"transcript_support_level": null,
"aa_start": 3902,
"aa_end": null,
"aa_length": 3978,
"cds_start": 11705,
"cds_end": null,
"cds_length": 11937,
"cdna_start": 11906,
"cdna_end": null,
"cdna_length": 12356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511489.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.11618A>G",
"hgvs_p": "p.Lys3873Arg",
"transcript": "XM_011511490.4",
"protein_id": "XP_011509792.1",
"transcript_support_level": null,
"aa_start": 3873,
"aa_end": null,
"aa_length": 3949,
"cds_start": 11618,
"cds_end": null,
"cds_length": 11850,
"cdna_start": 11744,
"cdna_end": null,
"cdna_length": 12194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511490.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.11570A>G",
"hgvs_p": "p.Lys3857Arg",
"transcript": "XM_017004504.3",
"protein_id": "XP_016859993.1",
"transcript_support_level": null,
"aa_start": 3857,
"aa_end": null,
"aa_length": 3933,
"cds_start": 11570,
"cds_end": null,
"cds_length": 11802,
"cdna_start": 11696,
"cdna_end": null,
"cdna_length": 12146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004504.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "c.6215A>G",
"hgvs_p": "p.Lys2072Arg",
"transcript": "XM_011511497.3",
"protein_id": "XP_011509799.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2148,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6447,
"cdna_start": 6340,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511497.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"hgvs_c": "n.341A>G",
"hgvs_p": null,
"transcript": "ENST00000484183.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 737,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985972",
"gene_hgnc_id": null,
"hgvs_c": "n.1713-42T>C",
"hgvs_p": null,
"transcript": "XR_001739837.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6744,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739837.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985972",
"gene_hgnc_id": null,
"hgvs_c": "n.1713-42T>C",
"hgvs_p": null,
"transcript": "XR_007087797.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007087797.1"
}
],
"gene_symbol": "DNAH7",
"gene_hgnc_id": 18661,
"dbsnp": "rs374466394",
"frequency_reference_population": 7.135854e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.13585e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46417272090911865,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.1196,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.355,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018897.3",
"gene_symbol": "DNAH7",
"hgnc_id": 18661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11843A>G",
"hgvs_p": "p.Lys3948Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001739837.2",
"gene_symbol": "LOC107985972",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1713-42T>C",
"hgvs_p": null
}
],
"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
}