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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: 22-21772875-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21772875&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 21772875,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002745.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "NM_002745.5",
"protein_id": "NP_002736.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215832.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002745.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000215832.11",
"protein_id": "ENSP00000215832.7",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002745.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215832.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000398822.7",
"protein_id": "ENSP00000381803.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398822.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000544786.1",
"protein_id": "ENSP00000440842.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 316,
"cds_start": 832,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544786.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Glu325Lys",
"transcript": "ENST00000962869.1",
"protein_id": "ENSP00000632928.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 363,
"cds_start": 973,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962869.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "NM_138957.3",
"protein_id": "NP_620407.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138957.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000879585.1",
"protein_id": "ENSP00000549644.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879585.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000962868.1",
"protein_id": "ENSP00000632927.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962868.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000962870.1",
"protein_id": "ENSP00000632929.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962870.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000962871.1",
"protein_id": "ENSP00000632930.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962871.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000962872.1",
"protein_id": "ENSP00000632931.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 964,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962872.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"transcript": "ENST00000879586.1",
"protein_id": "ENSP00000549645.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 321,
"cds_start": 847,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879586.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"hgvs_c": "c.610-3555G>A",
"hgvs_p": null,
"transcript": "ENST00000879587.1",
"protein_id": "ENSP00000549646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879587.1"
}
],
"gene_symbol": "MAPK1",
"gene_hgnc_id": 6871,
"dbsnp": "rs1057519911",
"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": 0.8391486406326294,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8339999914169312,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.429,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9884,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.86,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.964712407980246,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002745.5",
"gene_symbol": "MAPK1",
"hgnc_id": 6871,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "null",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neoplasm",
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}