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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: 4-84635283-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=84635283&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 84635283,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001263.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "NM_001263.4",
"protein_id": "NP_001254.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 461,
"cds_start": 742,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295887.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001263.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "ENST00000295887.6",
"protein_id": "ENSP00000295887.5",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 461,
"cds_start": 742,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295887.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.838A>T",
"hgvs_p": "p.Ser280Cys",
"transcript": "ENST00000891571.1",
"protein_id": "ENSP00000561630.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 493,
"cds_start": 838,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891571.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.838A>T",
"hgvs_p": "p.Ser280Cys",
"transcript": "ENST00000959938.1",
"protein_id": "ENSP00000629997.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 453,
"cds_start": 838,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959938.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "ENST00000891568.1",
"protein_id": "ENSP00000561627.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 438,
"cds_start": 742,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891568.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "ENST00000930193.1",
"protein_id": "ENSP00000600252.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 429,
"cds_start": 742,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930193.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "ENST00000891567.1",
"protein_id": "ENSP00000561626.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 421,
"cds_start": 742,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891567.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "ENST00000930194.1",
"protein_id": "ENSP00000600253.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 398,
"cds_start": 742,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930194.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "XM_017007648.3",
"protein_id": "XP_016863137.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 438,
"cds_start": 742,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007648.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "XM_005262687.4",
"protein_id": "XP_005262744.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 421,
"cds_start": 742,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262687.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "XM_017007649.3",
"protein_id": "XP_016863138.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 398,
"cds_start": 742,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007649.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "XM_017007650.3",
"protein_id": "XP_016863139.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 360,
"cds_start": 742,
"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": "XM_017007650.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys",
"transcript": "XM_017007651.3",
"protein_id": "XP_016863140.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 337,
"cds_start": 742,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007651.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.639+3406A>T",
"hgvs_p": null,
"transcript": "ENST00000891570.1",
"protein_id": "ENSP00000561629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"hgvs_c": "c.639+3406A>T",
"hgvs_p": null,
"transcript": "ENST00000891569.1",
"protein_id": "ENSP00000561628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891569.1"
}
],
"gene_symbol": "CDS1",
"gene_hgnc_id": 1800,
"dbsnp": "rs547078642",
"frequency_reference_population": 0.000022373195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.000022641,
"gnomad_genomes_af": 0.0000198665,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12900963425636292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0709,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.263,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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_001263.4",
"gene_symbol": "CDS1",
"hgnc_id": 1800,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.742A>T",
"hgvs_p": "p.Ser248Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}