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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: 2-84670377-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=84670377&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 84670377,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000389394.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "NM_001370.2",
"protein_id": "NP_001361.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 4158,
"cds_start": 6356,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 12752,
"mane_select": "ENST00000389394.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "ENST00000389394.8",
"protein_id": "ENSP00000374045.3",
"transcript_support_level": 5,
"aa_start": 2119,
"aa_end": null,
"aa_length": 4158,
"cds_start": 6356,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 12752,
"mane_select": "NM_001370.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "n.584A>G",
"hgvs_p": null,
"transcript": "ENST00000602588.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "XM_006711956.3",
"protein_id": "XP_006712019.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 4158,
"cds_start": 6356,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 6691,
"cdna_end": null,
"cdna_length": 12993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "XM_011532649.3",
"protein_id": "XP_011530951.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 4158,
"cds_start": 6356,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 6463,
"cdna_end": null,
"cdna_length": 12765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "XM_011532650.4",
"protein_id": "XP_011530952.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 4158,
"cds_start": 6356,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 6468,
"cdna_end": null,
"cdna_length": 12770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6230A>G",
"hgvs_p": "p.Tyr2077Cys",
"transcript": "XM_011532652.2",
"protein_id": "XP_011530954.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 4116,
"cds_start": 6230,
"cds_end": null,
"cds_length": 12351,
"cdna_start": 6324,
"cdna_end": null,
"cdna_length": 12626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "XM_011532653.2",
"protein_id": "XP_011530955.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 4109,
"cds_start": 6356,
"cds_end": null,
"cds_length": 12330,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 12605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6230A>G",
"hgvs_p": "p.Tyr2077Cys",
"transcript": "XM_017003521.2",
"protein_id": "XP_016859010.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 4067,
"cds_start": 6230,
"cds_end": null,
"cds_length": 12204,
"cdna_start": 6324,
"cdna_end": null,
"cdna_length": 12479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5966A>G",
"hgvs_p": "p.Tyr1989Cys",
"transcript": "XM_011532654.1",
"protein_id": "XP_011530956.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 4028,
"cds_start": 5966,
"cds_end": null,
"cds_length": 12087,
"cdna_start": 6226,
"cdna_end": null,
"cdna_length": 12528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5372A>G",
"hgvs_p": "p.Tyr1791Cys",
"transcript": "XM_011532655.2",
"protein_id": "XP_011530957.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 3830,
"cds_start": 5372,
"cds_end": null,
"cds_length": 11493,
"cdna_start": 5515,
"cdna_end": null,
"cdna_length": 11817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5093A>G",
"hgvs_p": "p.Tyr1698Cys",
"transcript": "XM_011532657.1",
"protein_id": "XP_011530959.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 3737,
"cds_start": 5093,
"cds_end": null,
"cds_length": 11214,
"cdna_start": 5254,
"cdna_end": null,
"cdna_length": 11556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5093A>G",
"hgvs_p": "p.Tyr1698Cys",
"transcript": "XM_047443589.1",
"protein_id": "XP_047299545.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 3737,
"cds_start": 5093,
"cds_end": null,
"cds_length": 11214,
"cdna_start": 5245,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.4364A>G",
"hgvs_p": "p.Tyr1455Cys",
"transcript": "XM_047443590.1",
"protein_id": "XP_047299546.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 3494,
"cds_start": 4364,
"cds_end": null,
"cds_length": 10485,
"cdna_start": 4490,
"cdna_end": null,
"cdna_length": 10792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "XM_011532660.2",
"protein_id": "XP_011530962.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 2275,
"cds_start": 6356,
"cds_end": null,
"cds_length": 6828,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 7030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys",
"transcript": "XM_017003524.2",
"protein_id": "XP_016859013.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 2213,
"cds_start": 6356,
"cds_end": null,
"cds_length": 6642,
"cdna_start": 6450,
"cdna_end": null,
"cdna_length": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"dbsnp": "rs17025409",
"frequency_reference_population": 0.024104068,
"hom_count_reference_population": 633,
"allele_count_reference_population": 37200,
"gnomad_exomes_af": 0.0243677,
"gnomad_genomes_af": 0.0216963,
"gnomad_exomes_ac": 33895,
"gnomad_genomes_ac": 3305,
"gnomad_exomes_homalt": 583,
"gnomad_genomes_homalt": 50,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005837470293045044,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.489,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.572,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000389394.8",
"gene_symbol": "DNAH6",
"hgnc_id": 2951,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Tyr2119Cys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}