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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: 11-103109767-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=103109767&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 103109767,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000375735.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "NM_001080463.2",
"protein_id": "NP_001073932.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 4314,
"cds_start": 193,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "ENST00000650373.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "ENST00000650373.2",
"protein_id": "ENSP00000497174.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 4314,
"cds_start": 193,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "NM_001080463.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "NM_001377.3",
"protein_id": "NP_001368.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 4307,
"cds_start": 193,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "ENST00000375735.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "ENST00000375735.7",
"protein_id": "ENSP00000364887.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 4307,
"cds_start": 193,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "NM_001377.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "ENST00000334267.11",
"protein_id": "ENSP00000334021.7",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 920,
"cds_start": 193,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "ENST00000648198.1",
"protein_id": "ENSP00000497329.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1255,
"cds_start": 193,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "XM_006718903.3",
"protein_id": "XP_006718966.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 4300,
"cds_start": 193,
"cds_end": null,
"cds_length": 12903,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 13662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "XM_017018291.2",
"protein_id": "XP_016873780.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 4237,
"cds_start": 193,
"cds_end": null,
"cds_length": 12714,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 13473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro",
"transcript": "XM_017018293.2",
"protein_id": "XP_016873782.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2485,
"cds_start": 193,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "n.193A>C",
"hgvs_p": null,
"transcript": "ENST00000649323.1",
"protein_id": "ENSP00000497581.1",
"transcript_support_level": null,
"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": 8330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"dbsnp": "rs555339053",
"frequency_reference_population": 6.846961e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84696e-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": 0.14947918057441711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.2526,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.481,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000505854201559164,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375735.7",
"gene_symbol": "DYNC2H1",
"hgnc_id": 2962,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.193A>C",
"hgvs_p": "p.Thr65Pro"
}
],
"clinvar_disease": "Asphyxiating thoracic dystrophy 3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Asphyxiating thoracic dystrophy 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}