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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: 11-103253349-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=103253349&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM1",
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYNC2H1",
"hgnc_id": 2962,
"hgvs_c": "c.10128T>A",
"hgvs_p": "p.Phe3376Leu",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001080463.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285878",
"hgnc_id": null,
"hgvs_c": "n.691-1045A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000649070.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM1,PM2",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9478,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6626143455505371,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4314,
"aa_ref": "F",
"aa_start": 3376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13704,
"cdna_start": 10277,
"cds_end": null,
"cds_length": 12945,
"cds_start": 10128,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 67,
"exon_rank_end": null,
"feature": "NM_001080463.2",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.10128T>A",
"hgvs_p": "p.Phe3376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000650373.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073932.1",
"strand": true,
"transcript": "NM_001080463.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4314,
"aa_ref": "F",
"aa_start": 3376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13704,
"cdna_start": 10277,
"cds_end": null,
"cds_length": 12945,
"cds_start": 10128,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 67,
"exon_rank_end": null,
"feature": "ENST00000650373.2",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.10128T>A",
"hgvs_p": "p.Phe3376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001080463.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497174.1",
"strand": true,
"transcript": "ENST00000650373.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4307,
"aa_ref": "F",
"aa_start": 3369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13683,
"cdna_start": 10256,
"cds_end": null,
"cds_length": 12924,
"cds_start": 10107,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "NM_001377.3",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.10107T>A",
"hgvs_p": "p.Phe3369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375735.7",
"protein_coding": true,
"protein_id": "NP_001368.2",
"strand": true,
"transcript": "NM_001377.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4307,
"aa_ref": "F",
"aa_start": 3369,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13683,
"cdna_start": 10256,
"cds_end": null,
"cds_length": 12924,
"cds_start": 10107,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "ENST00000375735.7",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.10107T>A",
"hgvs_p": "p.Phe3369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001377.3",
"protein_coding": true,
"protein_id": "ENSP00000364887.2",
"strand": true,
"transcript": "ENST00000375735.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 920,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": null,
"cds_end": null,
"cds_length": 2763,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334267.11",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.2205+118930T>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334021.7",
"strand": true,
"transcript": "ENST00000334267.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4218,
"aa_ref": "F",
"aa_start": 3280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13039,
"cdna_start": 9852,
"cds_end": null,
"cds_length": 12657,
"cds_start": 9840,
"consequences": [
"missense_variant"
],
"exon_count": 87,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "ENST00000925566.1",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.9840T>A",
"hgvs_p": "p.Phe3280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595625.1",
"strand": true,
"transcript": "ENST00000925566.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4300,
"aa_ref": "F",
"aa_start": 3362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13662,
"cdna_start": 10235,
"cds_end": null,
"cds_length": 12903,
"cds_start": 10086,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_006718903.3",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.10086T>A",
"hgvs_p": "p.Phe3362Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718966.1",
"strand": true,
"transcript": "XM_006718903.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4237,
"aa_ref": "F",
"aa_start": 3369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13473,
"cdna_start": 10256,
"cds_end": null,
"cds_length": 12714,
"cds_start": 10107,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017018291.2",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.10107T>A",
"hgvs_p": "p.Phe3369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873780.1",
"strand": true,
"transcript": "XM_017018291.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 4101,
"aa_ref": "F",
"aa_start": 3163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12932,
"cdna_start": 9505,
"cds_end": null,
"cds_length": 12306,
"cds_start": 9489,
"consequences": [
"missense_variant"
],
"exon_count": 86,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "XM_017018292.2",
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"hgvs_c": "c.9489T>A",
"hgvs_p": "p.Phe3163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873781.1",
"strand": true,
"transcript": "XM_017018292.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649070.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285878",
"hgvs_c": "n.691-1045A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649070.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2962,
"gene_symbol": "DYNC2H1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.733,
"pos": 103253349,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.246,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001080463.2"
}
]
}