← Back to variant description
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: 2-27079129-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27079129&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27079129,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007046.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "NM_007046.4",
"protein_id": "NP_008977.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1016,
"cds_start": 64,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": "ENST00000380320.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007046.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000380320.9",
"protein_id": "ENSP00000369677.4",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 1016,
"cds_start": 64,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": "NM_007046.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380320.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957377.1",
"protein_id": "ENSP00000627436.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1111,
"cds_start": 64,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957377.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957375.1",
"protein_id": "ENSP00000627434.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1065,
"cds_start": 64,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957375.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957370.1",
"protein_id": "ENSP00000627429.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1022,
"cds_start": 64,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957370.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957369.1",
"protein_id": "ENSP00000627428.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1016,
"cds_start": 64,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957369.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957372.1",
"protein_id": "ENSP00000627431.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1015,
"cds_start": 64,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957372.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000865596.1",
"protein_id": "ENSP00000535655.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1013,
"cds_start": 64,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865596.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000865597.1",
"protein_id": "ENSP00000535656.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1012,
"cds_start": 64,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865597.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957374.1",
"protein_id": "ENSP00000627433.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 976,
"cds_start": 64,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957374.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957376.1",
"protein_id": "ENSP00000627435.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 976,
"cds_start": 64,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957376.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000865593.1",
"protein_id": "ENSP00000535652.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 970,
"cds_start": 64,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865593.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957371.1",
"protein_id": "ENSP00000627430.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 930,
"cds_start": 64,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957371.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000865594.1",
"protein_id": "ENSP00000535653.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 468,
"cds_start": 64,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865594.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000865595.1",
"protein_id": "ENSP00000535654.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 373,
"cds_start": 64,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865595.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr",
"transcript": "ENST00000957373.1",
"protein_id": "ENSP00000627432.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 327,
"cds_start": 64,
"cds_end": null,
"cds_length": 984,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957373.1"
}
],
"gene_symbol": "EMILIN1",
"gene_hgnc_id": 19880,
"dbsnp": "rs753862645",
"frequency_reference_population": 0.000010600751,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000895677,
"gnomad_genomes_af": 0.0000262736,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4356536865234375,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.1233,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.175,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_007046.4",
"gene_symbol": "EMILIN1",
"hgnc_id": 19880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Ala22Thr"
}
],
"clinvar_disease": " autosomal dominant 10, distal hereditary motor,Inborn genetic diseases,Neuronopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases|Neuronopathy, distal hereditary motor, autosomal dominant 10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}