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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: 11-103456350-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=103456350&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 103456350,
"ref": "A",
"alt": "AT",
"effect": "frameshift_variant",
"transcript": "NM_001080463.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12663_12664insT",
"hgvs_p": "p.Ile4222fs",
"transcript": "NM_001080463.2",
"protein_id": "NP_001073932.1",
"transcript_support_level": null,
"aa_start": 4222,
"aa_end": null,
"aa_length": 4314,
"cds_start": 12664,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 12813,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "ENST00000650373.2",
"biotype": "protein_coding",
"feature": "NM_001080463.2"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12663_12664insT",
"hgvs_p": "p.Ile4222fs",
"transcript": "ENST00000650373.2",
"protein_id": "ENSP00000497174.1",
"transcript_support_level": null,
"aa_start": 4222,
"aa_end": null,
"aa_length": 4314,
"cds_start": 12664,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 12813,
"cdna_end": null,
"cdna_length": 13704,
"mane_select": null,
"mane_plus": "NM_001080463.2",
"biotype": "protein_coding",
"feature": "ENST00000650373.2"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12642_12643insT",
"hgvs_p": "p.Ile4215fs",
"transcript": "NM_001377.3",
"protein_id": "NP_001368.2",
"transcript_support_level": null,
"aa_start": 4215,
"aa_end": null,
"aa_length": 4307,
"cds_start": 12643,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 12792,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "ENST00000375735.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377.3"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12642_12643insT",
"hgvs_p": "p.Ile4215fs",
"transcript": "ENST00000375735.7",
"protein_id": "ENSP00000364887.2",
"transcript_support_level": 1,
"aa_start": 4215,
"aa_end": null,
"aa_length": 4307,
"cds_start": 12643,
"cds_end": null,
"cds_length": 12924,
"cdna_start": 12792,
"cdna_end": null,
"cdna_length": 13683,
"mane_select": "NM_001377.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375735.7"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.2481_2482insT",
"hgvs_p": "p.Ile828fs",
"transcript": "ENST00000334267.11",
"protein_id": "ENSP00000334021.7",
"transcript_support_level": 1,
"aa_start": 828,
"aa_end": null,
"aa_length": 920,
"cds_start": 2482,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334267.11"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12375_12376insT",
"hgvs_p": "p.Ile4126fs",
"transcript": "ENST00000925566.1",
"protein_id": "ENSP00000595625.1",
"transcript_support_level": null,
"aa_start": 4126,
"aa_end": null,
"aa_length": 4218,
"cds_start": 12376,
"cds_end": null,
"cds_length": 12657,
"cdna_start": 12388,
"cdna_end": null,
"cdna_length": 13039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925566.1"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.393_394insT",
"hgvs_p": "p.Ile132fs",
"transcript": "ENST00000533197.1",
"protein_id": "ENSP00000436736.1",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 224,
"cds_start": 394,
"cds_end": null,
"cds_length": 675,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533197.1"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12621_12622insT",
"hgvs_p": "p.Ile4208fs",
"transcript": "XM_006718903.3",
"protein_id": "XP_006718966.1",
"transcript_support_level": null,
"aa_start": 4208,
"aa_end": null,
"aa_length": 4300,
"cds_start": 12622,
"cds_end": null,
"cds_length": 12903,
"cdna_start": 12771,
"cdna_end": null,
"cdna_length": 13662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718903.3"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12432_12433insT",
"hgvs_p": "p.Ile4145fs",
"transcript": "XM_017018291.2",
"protein_id": "XP_016873780.1",
"transcript_support_level": null,
"aa_start": 4145,
"aa_end": null,
"aa_length": 4237,
"cds_start": 12433,
"cds_end": null,
"cds_length": 12714,
"cdna_start": 12582,
"cdna_end": null,
"cdna_length": 13473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018291.2"
},
{
"aa_ref": "I",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "c.12024_12025insT",
"hgvs_p": "p.Ile4009fs",
"transcript": "XM_017018292.2",
"protein_id": "XP_016873781.1",
"transcript_support_level": null,
"aa_start": 4009,
"aa_end": null,
"aa_length": 4101,
"cds_start": 12025,
"cds_end": null,
"cds_length": 12306,
"cdna_start": 12041,
"cdna_end": null,
"cdna_length": 12932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018292.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "n.*688_*689insT",
"hgvs_p": null,
"transcript": "ENST00000528670.5",
"protein_id": "ENSP00000433451.1",
"transcript_support_level": 5,
"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": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "n.373_374insT",
"hgvs_p": null,
"transcript": "ENST00000530547.1",
"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": 839,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"hgvs_c": "n.*688_*689insT",
"hgvs_p": null,
"transcript": "ENST00000528670.5",
"protein_id": "ENSP00000433451.1",
"transcript_support_level": 5,
"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": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528670.5"
}
],
"gene_symbol": "DYNC2H1",
"gene_hgnc_id": 2962,
"dbsnp": "rs756811136",
"frequency_reference_population": 0.0000065729796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657298,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.469,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001080463.2",
"gene_symbol": "DYNC2H1",
"hgnc_id": 2962,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12663_12664insT",
"hgvs_p": "p.Ile4222fs"
}
],
"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
}