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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: 2-84517989-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=84517989&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 84517989,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001370.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "NM_001370.2",
"protein_id": "NP_001361.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4158,
"cds_start": 163,
"cds_end": null,
"cds_length": 12477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389394.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "ENST00000389394.8",
"protein_id": "ENSP00000374045.3",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 4158,
"cds_start": 163,
"cds_end": null,
"cds_length": 12477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389394.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "n.167C>T",
"hgvs_p": null,
"transcript": "ENST00000494025.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000494025.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_006711956.3",
"protein_id": "XP_006712019.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4158,
"cds_start": 163,
"cds_end": null,
"cds_length": 12477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711956.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_011532649.3",
"protein_id": "XP_011530951.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4158,
"cds_start": 163,
"cds_end": null,
"cds_length": 12477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532649.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_011532650.4",
"protein_id": "XP_011530952.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4158,
"cds_start": 163,
"cds_end": null,
"cds_length": 12477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532650.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_011532652.2",
"protein_id": "XP_011530954.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4116,
"cds_start": 163,
"cds_end": null,
"cds_length": 12351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532652.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_011532653.2",
"protein_id": "XP_011530955.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4109,
"cds_start": 163,
"cds_end": null,
"cds_length": 12330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532653.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_017003521.2",
"protein_id": "XP_016859010.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 4067,
"cds_start": 163,
"cds_end": null,
"cds_length": 12204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003521.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_011532660.2",
"protein_id": "XP_011530962.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 2275,
"cds_start": 163,
"cds_end": null,
"cds_length": 6828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532660.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr",
"transcript": "XM_017003524.2",
"protein_id": "XP_016859013.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 2213,
"cds_start": 163,
"cds_end": null,
"cds_length": 6642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003524.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.-140C>T",
"hgvs_p": null,
"transcript": "XM_047443589.1",
"protein_id": "XP_047299545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3737,
"cds_start": null,
"cds_end": null,
"cds_length": 11214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "n.218C>T",
"hgvs_p": null,
"transcript": "ENST00000468661.1",
"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": "ENST00000468661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "n.300C>T",
"hgvs_p": null,
"transcript": "ENST00000476689.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476689.5"
}
],
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"dbsnp": "rs112166113",
"frequency_reference_population": 0.009264861,
"hom_count_reference_population": 78,
"allele_count_reference_population": 14365,
"gnomad_exomes_af": 0.00949174,
"gnomad_genomes_af": 0.00718068,
"gnomad_exomes_ac": 13272,
"gnomad_genomes_ac": 1093,
"gnomad_exomes_homalt": 71,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0042708516120910645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.1529,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.533,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001370.2",
"gene_symbol": "DNAH6",
"hgnc_id": 2951,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.His55Tyr"
}
],
"clinvar_disease": "DNAH6-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|DNAH6-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}