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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: 2-148947019-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=148947019&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 148947019,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004522.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "NM_004522.3",
"protein_id": "NP_004513.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 957,
"cds_start": 710,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": "ENST00000435030.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004522.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "ENST00000435030.6",
"protein_id": "ENSP00000393379.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 957,
"cds_start": 710,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": "NM_004522.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435030.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.575A>T",
"hgvs_p": null,
"transcript": "ENST00000464066.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464066.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "ENST00000677891.1",
"protein_id": "ENSP00000503013.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 957,
"cds_start": 710,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677891.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "ENST00000677280.1",
"protein_id": "ENSP00000503955.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 956,
"cds_start": 710,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677280.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "ENST00000678056.1",
"protein_id": "ENSP00000503535.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 934,
"cds_start": 710,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678056.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "ENST00000677843.1",
"protein_id": "ENSP00000504362.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 933,
"cds_start": 710,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677843.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val",
"transcript": "XM_017004062.2",
"protein_id": "XP_016859551.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 957,
"cds_start": 710,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004062.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.1101A>T",
"hgvs_p": null,
"transcript": "ENST00000676875.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.710A>T",
"hgvs_p": null,
"transcript": "ENST00000677747.1",
"protein_id": "ENSP00000504145.1",
"transcript_support_level": null,
"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": 7144,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.3562A>T",
"hgvs_p": null,
"transcript": "ENST00000678133.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678133.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.710A>T",
"hgvs_p": null,
"transcript": "ENST00000678160.1",
"protein_id": "ENSP00000503636.1",
"transcript_support_level": null,
"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": 6877,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"hgvs_c": "n.1101A>T",
"hgvs_p": null,
"transcript": "ENST00000678291.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678291.1"
}
],
"gene_symbol": "KIF5C",
"gene_hgnc_id": 6325,
"dbsnp": "rs587777035",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9843318462371826,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.98,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_004522.3",
"gene_symbol": "KIF5C",
"hgnc_id": 6325,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Glu237Val"
}
],
"clinvar_disease": "Complex cortical dysplasia with other brain malformations 2",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Complex cortical dysplasia with other brain malformations 2",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}