← 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: 11-103220720-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=103220720&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 103220720,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000375735.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.9044A>G",
"hgvs_p": "p.Asp3015Gly",
"transcript": "NM_001080463.2",
"protein_id": "NP_001073932.1",
"transcript_support_level": null,
"aa_start": 3015,
"aa_end": null,
"aa_length": 4314,
"cds_start": 9044,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 9193,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "ENST00000650373.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.9044A>G",
"hgvs_p": "p.Asp3015Gly",
"transcript": "ENST00000650373.2",
"protein_id": "ENSP00000497174.1",
"transcript_support_level": null,
"aa_start": 3015,
"aa_end": null,
"aa_length": 4314,
"cds_start": 9044,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 9193,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "NM_001080463.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.9044A>G",
"hgvs_p": "p.Asp3015Gly",
"transcript": "NM_001377.3",
"protein_id": "NP_001368.2",
"transcript_support_level": null,
"aa_start": 3015,
"aa_end": null,
"aa_length": 4307,
"cds_start": 9044,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 9193,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "ENST00000375735.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.9044A>G",
"hgvs_p": "p.Asp3015Gly",
"transcript": "ENST00000375735.7",
"protein_id": "ENSP00000364887.2",
"transcript_support_level": 1,
"aa_start": 3015,
"aa_end": null,
"aa_length": 4307,
"cds_start": 9044,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 9193,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "NM_001377.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.2205+86301A>G",
"hgvs_p": null,
"transcript": "ENST00000334267.11",
"protein_id": "ENSP00000334021.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.9023A>G",
"hgvs_p": "p.Asp3008Gly",
"transcript": "XM_006718903.3",
"protein_id": "XP_006718966.1",
"transcript_support_level": null,
"aa_start": 3008,
"aa_end": null,
"aa_length": 4300,
"cds_start": 9023,
"cds_end": null,
"cds_length": 12903,
"cdna_start": 9172,
"cdna_end": null,
"cdna_length": 13662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.9044A>G",
"hgvs_p": "p.Asp3015Gly",
"transcript": "XM_017018291.2",
"protein_id": "XP_016873780.1",
"transcript_support_level": null,
"aa_start": 3015,
"aa_end": null,
"aa_length": 4237,
"cds_start": 9044,
"cds_end": null,
"cds_length": 12714,
"cdna_start": 9193,
"cdna_end": null,
"cdna_length": 13473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.8426A>G",
"hgvs_p": "p.Asp2809Gly",
"transcript": "XM_017018292.2",
"protein_id": "XP_016873781.1",
"transcript_support_level": null,
"aa_start": 2809,
"aa_end": null,
"aa_length": 4101,
"cds_start": 8426,
"cds_end": null,
"cds_length": 12306,
"cdna_start": 8442,
"cdna_end": null,
"cdna_length": 12932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"dbsnp": "rs137853027",
"frequency_reference_population": 0.00024303446,
"hom_count_reference_population": 0,
"allele_count_reference_population": 392,
"gnomad_exomes_af": 0.000243016,
"gnomad_genomes_af": 0.000243216,
"gnomad_exomes_ac": 355,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7549271583557129,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8999999761581421,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.687,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.9,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375735.7",
"gene_symbol": "DYNC2H1",
"hgnc_id": 2962,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9044A>G",
"hgvs_p": "p.Asp3015Gly"
}
],
"clinvar_disease": "Asphyxiating thoracic dystrophy 3,Bowing of the long bones,DYNC2H1-related disorder,Fetal growth restriction,Jeune thoracic dystrophy,Narrow chest,Short rib-polydactyly syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:14 LP:3 US:1",
"phenotype_combined": "Asphyxiating thoracic dystrophy 3|not provided|Jeune thoracic dystrophy|Narrow chest;Fetal growth restriction;Bowing of the long bones|Short rib-polydactyly syndrome|DYNC2H1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}