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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: 3-32537012-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32537012&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 32537012,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016141.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His",
"transcript": "NM_016141.4",
"protein_id": "NP_057225.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 523,
"cds_start": 831,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": "ENST00000273130.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016141.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His",
"transcript": "ENST00000273130.9",
"protein_id": "ENSP00000273130.4",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 523,
"cds_start": 831,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": "NM_016141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273130.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.912G>C",
"hgvs_p": "p.Gln304His",
"transcript": "ENST00000891300.1",
"protein_id": "ENSP00000561359.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 550,
"cds_start": 912,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891300.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His",
"transcript": "ENST00000954370.1",
"protein_id": "ENSP00000624429.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 520,
"cds_start": 831,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954370.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.801G>C",
"hgvs_p": "p.Gln267His",
"transcript": "ENST00000954369.1",
"protein_id": "ENSP00000624428.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 513,
"cds_start": 801,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954369.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His",
"transcript": "ENST00000891298.1",
"protein_id": "ENSP00000561357.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 503,
"cds_start": 831,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891298.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.600G>C",
"hgvs_p": "p.Gln200His",
"transcript": "ENST00000891299.1",
"protein_id": "ENSP00000561358.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 446,
"cds_start": 600,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891299.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.483G>C",
"hgvs_p": "p.Gln161His",
"transcript": "NM_001329135.2",
"protein_id": "NP_001316064.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 407,
"cds_start": 483,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329135.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.483G>C",
"hgvs_p": "p.Gln161His",
"transcript": "ENST00000432458.6",
"protein_id": "ENSP00000407279.2",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 407,
"cds_start": 483,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432458.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.393G>C",
"hgvs_p": "p.Gln131His",
"transcript": "XM_047448246.1",
"protein_id": "XP_047304202.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 377,
"cds_start": 393,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.738+4025G>C",
"hgvs_p": null,
"transcript": "ENST00000918076.1",
"protein_id": "ENSP00000588135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "n.261G>C",
"hgvs_p": null,
"transcript": "ENST00000472985.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "n.754G>C",
"hgvs_p": null,
"transcript": "ENST00000481915.5",
"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": 4791,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481915.5"
}
],
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"dbsnp": "rs1478050321",
"frequency_reference_population": 0.0000028657319,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000286573,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1702737808227539,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.003170117735862732,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_ADA",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.2477,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.612,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0031701177493061,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016141.4",
"gene_symbol": "DYNC1LI1",
"hgnc_id": 18745,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Gln277His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}