← 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: 4-5563114-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=5563114&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 5563114,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_147127.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3660delC",
"hgvs_p": "p.Ser1220fs",
"transcript": "NM_147127.5",
"protein_id": "NP_667338.3",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344408.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147127.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3660delC",
"hgvs_p": "p.Ser1220fs",
"transcript": "ENST00000344408.10",
"protein_id": "ENSP00000342144.5",
"transcript_support_level": 1,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3660,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147127.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344408.10"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3420delC",
"hgvs_p": "p.Ser1140fs",
"transcript": "ENST00000310917.6",
"protein_id": "ENSP00000311683.2",
"transcript_support_level": 1,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310917.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "n.*2053delC",
"hgvs_p": null,
"transcript": "ENST00000509670.1",
"protein_id": "ENSP00000423876.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "n.*2053delC",
"hgvs_p": null,
"transcript": "ENST00000509670.1",
"protein_id": "ENSP00000423876.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "n.3419+2143delC",
"hgvs_p": null,
"transcript": "ENST00000475313.5",
"protein_id": "ENSP00000431981.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475313.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3777delC",
"hgvs_p": "p.Ser1259fs",
"transcript": "ENST00000917735.1",
"protein_id": "ENSP00000587794.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3777,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917735.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3696delC",
"hgvs_p": "p.Ser1232fs",
"transcript": "ENST00000861569.1",
"protein_id": "ENSP00000531628.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3696,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861569.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3669delC",
"hgvs_p": "p.Ser1223fs",
"transcript": "ENST00000956874.1",
"protein_id": "ENSP00000626933.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3669,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956874.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3600delC",
"hgvs_p": "p.Ser1200fs",
"transcript": "ENST00000956873.1",
"protein_id": "ENSP00000626932.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3600,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956873.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3591delC",
"hgvs_p": "p.Ser1197fs",
"transcript": "ENST00000861567.1",
"protein_id": "ENSP00000531626.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3591,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861567.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3576delC",
"hgvs_p": "p.Ser1192fs",
"transcript": "ENST00000861568.1",
"protein_id": "ENSP00000531627.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861568.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3558delC",
"hgvs_p": "p.Ser1186fs",
"transcript": "ENST00000917734.1",
"protein_id": "ENSP00000587793.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3558,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917734.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3420delC",
"hgvs_p": "p.Ser1140fs",
"transcript": "NM_001166136.2",
"protein_id": "NP_001159608.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166136.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3420delC",
"hgvs_p": "p.Ser1140fs",
"transcript": "XM_017007736.2",
"protein_id": "XP_016863225.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007736.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3420delC",
"hgvs_p": "p.Ser1140fs",
"transcript": "XM_047449610.1",
"protein_id": "XP_047305566.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449610.1"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"hgvs_c": "c.3419+2143delC",
"hgvs_p": null,
"transcript": "XM_047449611.1",
"protein_id": "XP_047305567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": null,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449611.1"
}
],
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"dbsnp": "rs753581033",
"frequency_reference_population": 0.000006844955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684495,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.9300000071525574,
"splice_prediction_selected": "Pathogenic",
"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": 0.614,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.93,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_147127.5",
"gene_symbol": "EVC2",
"hgnc_id": 19747,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3660delC",
"hgvs_p": "p.Ser1220fs"
}
],
"clinvar_disease": "Curry-Hall syndrome,Ellis-van Creveld syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Ellis-van Creveld syndrome|Curry-Hall syndrome;Ellis-van Creveld syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}