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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: 11-63999694-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63999694&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 63999694,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001411019.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "NM_014067.4",
"protein_id": "NP_054786.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255681.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014067.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "ENST00000255681.7",
"protein_id": "ENSP00000255681.6",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255681.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "ENST00000909130.1",
"protein_id": "ENSP00000579189.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 344,
"cds_start": 734,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909130.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "NM_001411019.1",
"protein_id": "NP_001397948.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 334,
"cds_start": 734,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411019.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "ENST00000675777.1",
"protein_id": "ENSP00000502549.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 334,
"cds_start": 734,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675777.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "ENST00000909127.1",
"protein_id": "ENSP00000579186.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 328,
"cds_start": 734,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909127.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Ser247Asn",
"transcript": "ENST00000909128.1",
"protein_id": "ENSP00000579187.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 327,
"cds_start": 740,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909128.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "ENST00000909125.1",
"protein_id": "ENSP00000579184.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909125.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn",
"transcript": "ENST00000909126.1",
"protein_id": "ENSP00000579185.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 324,
"cds_start": 734,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909126.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Ser243Asn",
"transcript": "ENST00000941620.1",
"protein_id": "ENSP00000611679.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 323,
"cds_start": 728,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941620.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Ser240Asn",
"transcript": "ENST00000941621.1",
"protein_id": "ENSP00000611680.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 320,
"cds_start": 719,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941621.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Ser235Asn",
"transcript": "ENST00000909124.1",
"protein_id": "ENSP00000579183.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 315,
"cds_start": 704,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909124.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Ser211Asn",
"transcript": "ENST00000909129.1",
"protein_id": "ENSP00000579188.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 291,
"cds_start": 632,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909129.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Ser206Asn",
"transcript": "ENST00000909131.1",
"protein_id": "ENSP00000579190.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 286,
"cds_start": 617,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909131.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Ser235Asn",
"transcript": "XM_011544970.3",
"protein_id": "XP_011543272.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 324,
"cds_start": 704,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544970.3"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "OTUB1",
"gene_hgnc_id": 23077,
"hgvs_c": "c.779-1762C>T",
"hgvs_p": null,
"transcript": "ENST00000535715.5",
"protein_id": "ENSP00000440211.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535715.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "n.298G>A",
"hgvs_p": null,
"transcript": "ENST00000543422.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000543422.5"
}
],
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"dbsnp": "rs199876740",
"frequency_reference_population": 0.00052946614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 852,
"gnomad_exomes_af": 0.000559425,
"gnomad_genomes_af": 0.000242916,
"gnomad_exomes_ac": 815,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04843071103096008,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.1229,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.255,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001411019.1",
"gene_symbol": "MACROD1",
"hgnc_id": 29598,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Ser245Asn"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000535715.5",
"gene_symbol": "OTUB1",
"hgnc_id": 23077,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.779-1762C>T",
"hgvs_p": null
}
],
"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
}