← Back to variant description
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: 3-57296381-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57296381&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57296381,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366028.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.11587G>C",
"hgvs_p": "p.Gly3863Arg",
"transcript": "NM_001366028.2",
"protein_id": "NP_001352957.1",
"transcript_support_level": null,
"aa_start": 3863,
"aa_end": null,
"aa_length": 3960,
"cds_start": 11587,
"cds_end": null,
"cds_length": 11883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000495027.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366028.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.11587G>C",
"hgvs_p": "p.Gly3863Arg",
"transcript": "ENST00000495027.6",
"protein_id": "ENSP00000418137.2",
"transcript_support_level": 5,
"aa_start": 3863,
"aa_end": null,
"aa_length": 3960,
"cds_start": 11587,
"cds_end": null,
"cds_length": 11883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366028.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495027.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.8983G>C",
"hgvs_p": "p.Gly2995Arg",
"transcript": "ENST00000351747.6",
"protein_id": "ENSP00000295937.3",
"transcript_support_level": 5,
"aa_start": 2995,
"aa_end": null,
"aa_length": 3092,
"cds_start": 8983,
"cds_end": null,
"cds_length": 9279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351747.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Gly642Arg",
"transcript": "ENST00000466540.2",
"protein_id": "ENSP00000420359.2",
"transcript_support_level": 5,
"aa_start": 642,
"aa_end": null,
"aa_length": 739,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466540.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.11587G>C",
"hgvs_p": "p.Gly3863Arg",
"transcript": "XM_047447666.1",
"protein_id": "XP_047303622.1",
"transcript_support_level": null,
"aa_start": 3863,
"aa_end": null,
"aa_length": 3960,
"cds_start": 11587,
"cds_end": null,
"cds_length": 11883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447666.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.11587G>C",
"hgvs_p": "p.Gly3863Arg",
"transcript": "XM_047447667.1",
"protein_id": "XP_047303623.1",
"transcript_support_level": null,
"aa_start": 3863,
"aa_end": null,
"aa_length": 3960,
"cds_start": 11587,
"cds_end": null,
"cds_length": 11883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447667.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.11524G>C",
"hgvs_p": "p.Gly3842Arg",
"transcript": "XM_011533468.2",
"protein_id": "XP_011531770.1",
"transcript_support_level": null,
"aa_start": 3842,
"aa_end": null,
"aa_length": 3939,
"cds_start": 11524,
"cds_end": null,
"cds_length": 11820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533468.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.11446G>C",
"hgvs_p": "p.Gly3816Arg",
"transcript": "XM_047447668.1",
"protein_id": "XP_047303624.1",
"transcript_support_level": null,
"aa_start": 3816,
"aa_end": null,
"aa_length": 3913,
"cds_start": 11446,
"cds_end": null,
"cds_length": 11742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447668.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.10087G>C",
"hgvs_p": "p.Gly3363Arg",
"transcript": "XM_047447669.1",
"protein_id": "XP_047303625.1",
"transcript_support_level": null,
"aa_start": 3363,
"aa_end": null,
"aa_length": 3460,
"cds_start": 10087,
"cds_end": null,
"cds_length": 10383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447669.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.8179G>C",
"hgvs_p": "p.Gly2727Arg",
"transcript": "XM_017005862.2",
"protein_id": "XP_016861351.1",
"transcript_support_level": null,
"aa_start": 2727,
"aa_end": null,
"aa_length": 2824,
"cds_start": 8179,
"cds_end": null,
"cds_length": 8475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005862.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "n.369G>C",
"hgvs_p": null,
"transcript": "ENST00000462713.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000462713.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "n.360G>C",
"hgvs_p": null,
"transcript": "ENST00000479363.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "n.*123G>C",
"hgvs_p": null,
"transcript": "ENST00000494758.5",
"protein_id": "ENSP00000420717.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000494758.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "n.*123G>C",
"hgvs_p": null,
"transcript": "ENST00000494758.5",
"protein_id": "ENSP00000420717.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000494758.5"
},
{
"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": "ENSG00000286952",
"gene_hgnc_id": null,
"hgvs_c": "n.311-1645C>G",
"hgvs_p": null,
"transcript": "ENST00000656348.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656348.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124909384",
"gene_hgnc_id": null,
"hgvs_c": "n.603-1645C>G",
"hgvs_p": null,
"transcript": "XR_007095923.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095923.1"
}
],
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"dbsnp": "rs114075870",
"frequency_reference_population": 0.0000021457479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000214575,
"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": 0.9662840366363525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.655,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.637,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001366028.2",
"gene_symbol": "DNAH12",
"hgnc_id": 2943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11587G>C",
"hgvs_p": "p.Gly3863Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000656348.1",
"gene_symbol": "ENSG00000286952",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.311-1645C>G",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007095923.1",
"gene_symbol": "LOC124909384",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.603-1645C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}