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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: 12-57581917-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57581917&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57581917,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000455537.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2957C>G",
"hgvs_p": "p.Pro986Arg",
"transcript": "NM_004984.4",
"protein_id": "NP_004975.2",
"transcript_support_level": null,
"aa_start": 986,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2957,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "ENST00000455537.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2957C>G",
"hgvs_p": "p.Pro986Arg",
"transcript": "ENST00000455537.7",
"protein_id": "ENSP00000408979.2",
"transcript_support_level": 1,
"aa_start": 986,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2957,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "NM_004984.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2978C>G",
"hgvs_p": "p.Pro993Arg",
"transcript": "ENST00000674619.1",
"protein_id": "ENSP00000502270.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3223,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2852C>G",
"hgvs_p": "p.Pro951Arg",
"transcript": "ENST00000676457.1",
"protein_id": "ENSP00000501588.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 997,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 3019,
"cdna_end": null,
"cdna_length": 5572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2690C>G",
"hgvs_p": "p.Pro897Arg",
"transcript": "NM_001354705.2",
"protein_id": "NP_001341634.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 943,
"cds_start": 2690,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 5512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.2690C>G",
"hgvs_p": "p.Pro897Arg",
"transcript": "ENST00000286452.5",
"protein_id": "ENSP00000286452.5",
"transcript_support_level": 2,
"aa_start": 897,
"aa_end": null,
"aa_length": 943,
"cds_start": 2690,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Pro16Arg",
"transcript": "ENST00000675697.1",
"protein_id": "ENSP00000501809.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 67,
"cds_start": 47,
"cds_end": null,
"cds_length": 204,
"cdna_start": 48,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Pro16Arg",
"transcript": "ENST00000676055.1",
"protein_id": "ENSP00000501739.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 31,
"cds_start": 47,
"cds_end": null,
"cds_length": 98,
"cdna_start": 48,
"cdna_end": null,
"cdna_length": 99,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.240C>G",
"hgvs_p": null,
"transcript": "ENST00000552227.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.361C>G",
"hgvs_p": null,
"transcript": "ENST00000675737.1",
"protein_id": null,
"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": 3298,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.2480C>G",
"hgvs_p": null,
"transcript": "ENST00000675882.1",
"protein_id": null,
"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": 5336,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "n.1515C>G",
"hgvs_p": null,
"transcript": "ENST00000675929.1",
"protein_id": null,
"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": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"hgvs_c": "c.-20C>G",
"hgvs_p": null,
"transcript": "ENST00000676437.1",
"protein_id": "ENSP00000502358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF5A",
"gene_hgnc_id": 6323,
"dbsnp": "rs113247976",
"frequency_reference_population": 0.0000024784192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": 0.00000657557,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14719802141189575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.0991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.253,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000455537.7",
"gene_symbol": "KIF5A",
"hgnc_id": 6323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2957C>G",
"hgvs_p": "p.Pro986Arg"
}
],
"clinvar_disease": "Spastic paraplegia,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Spastic paraplegia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}