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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: 4-5562907-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=5562907&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 5562907,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_147127.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3868A>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "NM_147127.5",
"protein_id": "NP_667338.3",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3868,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 3914,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": "ENST00000344408.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147127.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3868A>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "ENST00000344408.10",
"protein_id": "ENSP00000342144.5",
"transcript_support_level": 1,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3868,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 3914,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": "NM_147127.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344408.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3628A>G",
"hgvs_p": "p.Arg1210Gly",
"transcript": "ENST00000310917.6",
"protein_id": "ENSP00000311683.2",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 4360,
"cdna_end": null,
"cdna_length": 4828,
"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": [
"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.*2261A>G",
"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": 4079,
"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.*2261A>G",
"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": 4079,
"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+2351A>G",
"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": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475313.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3985A>G",
"hgvs_p": "p.Arg1329Gly",
"transcript": "ENST00000917735.1",
"protein_id": "ENSP00000587794.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917735.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3904A>G",
"hgvs_p": "p.Arg1302Gly",
"transcript": "ENST00000861569.1",
"protein_id": "ENSP00000531628.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3904,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861569.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3877A>G",
"hgvs_p": "p.Arg1293Gly",
"transcript": "ENST00000956874.1",
"protein_id": "ENSP00000626933.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3877,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3934,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956874.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3808A>G",
"hgvs_p": "p.Arg1270Gly",
"transcript": "ENST00000956873.1",
"protein_id": "ENSP00000626932.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3808,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 3879,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956873.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3799A>G",
"hgvs_p": "p.Arg1267Gly",
"transcript": "ENST00000861567.1",
"protein_id": "ENSP00000531626.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3799,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3864,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861567.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3784A>G",
"hgvs_p": "p.Arg1262Gly",
"transcript": "ENST00000861568.1",
"protein_id": "ENSP00000531627.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3784,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861568.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3766A>G",
"hgvs_p": "p.Arg1256Gly",
"transcript": "ENST00000917734.1",
"protein_id": "ENSP00000587793.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 3967,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917734.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3628A>G",
"hgvs_p": "p.Arg1210Gly",
"transcript": "NM_001166136.2",
"protein_id": "NP_001159608.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 4360,
"cdna_end": null,
"cdna_length": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166136.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3628A>G",
"hgvs_p": "p.Arg1210Gly",
"transcript": "XM_017007736.2",
"protein_id": "XP_016863225.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007736.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3628A>G",
"hgvs_p": "p.Arg1210Gly",
"transcript": "XM_047449610.1",
"protein_id": "XP_047305566.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 4329,
"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+2351A>G",
"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": 9453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449611.1"
}
],
"gene_symbol": "EVC2",
"gene_hgnc_id": 19747,
"dbsnp": "rs1371052060",
"frequency_reference_population": 0.000004956304,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000041043,
"gnomad_genomes_af": 0.0000131385,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26013362407684326,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.411,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.168,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_147127.5",
"gene_symbol": "EVC2",
"hgnc_id": 19747,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3868A>G",
"hgvs_p": "p.Arg1290Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}