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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: 11-103173242-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=103173242&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 103173242,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001377.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "NM_001080463.2",
"protein_id": "NP_001073932.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 4314,
"cds_start": 5495,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "ENST00000650373.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "ENST00000650373.2",
"protein_id": "ENSP00000497174.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 4314,
"cds_start": 5495,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "NM_001080463.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "NM_001377.3",
"protein_id": "NP_001368.2",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 4307,
"cds_start": 5495,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "ENST00000375735.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "ENST00000375735.7",
"protein_id": "ENSP00000364887.2",
"transcript_support_level": 1,
"aa_start": 1832,
"aa_end": null,
"aa_length": 4307,
"cds_start": 5495,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 5644,
"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+38823C>A",
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "XM_006718903.3",
"protein_id": "XP_006718966.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 4300,
"cds_start": 5495,
"cds_end": null,
"cds_length": 12903,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "XM_017018291.2",
"protein_id": "XP_016873780.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 4237,
"cds_start": 5495,
"cds_end": null,
"cds_length": 12714,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.4877C>A",
"hgvs_p": "p.Ser1626*",
"transcript": "XM_017018292.2",
"protein_id": "XP_016873781.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 4101,
"cds_start": 4877,
"cds_end": null,
"cds_length": 12306,
"cdna_start": 4893,
"cdna_end": null,
"cdna_length": 12932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*",
"transcript": "XM_017018293.2",
"protein_id": "XP_016873782.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 2485,
"cds_start": 5495,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 5644,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "n.*3040C>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "n.*3040C>A",
"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": "rs754919042",
"frequency_reference_population": 0.0000013811373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138114,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.84,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001377.3",
"gene_symbol": "DYNC2H1",
"hgnc_id": 2962,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5495C>A",
"hgvs_p": "p.Ser1832*"
}
],
"clinvar_disease": "Asphyxiating thoracic dystrophy 3,Jeune thoracic dystrophy",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}