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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: 9-101368187-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101368187&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 101368187,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001701.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "NM_001701.4",
"protein_id": "NP_001692.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259407.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001701.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000259407.7",
"protein_id": "ENSP00000259407.2",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001701.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259407.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000395051.4",
"protein_id": "ENSP00000378491.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395051.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "NM_001127610.2",
"protein_id": "NP_001121082.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127610.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "NM_001374715.1",
"protein_id": "NP_001361644.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374715.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000674556.1",
"protein_id": "ENSP00000501610.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674556.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904170.1",
"protein_id": "ENSP00000574229.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904170.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904171.1",
"protein_id": "ENSP00000574230.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904171.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904173.1",
"protein_id": "ENSP00000574232.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904173.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904174.1",
"protein_id": "ENSP00000574233.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904174.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904179.1",
"protein_id": "ENSP00000574238.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904179.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904180.1",
"protein_id": "ENSP00000574239.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904180.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904181.1",
"protein_id": "ENSP00000574240.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904181.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904182.1",
"protein_id": "ENSP00000574241.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 418,
"cds_start": 602,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904182.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200His",
"transcript": "ENST00000904178.1",
"protein_id": "ENSP00000574237.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 417,
"cds_start": 599,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904178.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904172.1",
"protein_id": "ENSP00000574231.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 373,
"cds_start": 602,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904172.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000904177.1",
"protein_id": "ENSP00000574236.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 373,
"cds_start": 602,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904177.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.87+3131G>A",
"hgvs_p": null,
"transcript": "ENST00000904176.1",
"protein_id": "ENSP00000574235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904176.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.87+3131G>A",
"hgvs_p": null,
"transcript": "ENST00000904175.1",
"protein_id": "ENSP00000574234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "n.602G>A",
"hgvs_p": null,
"transcript": "ENST00000674791.1",
"protein_id": "ENSP00000501644.1",
"transcript_support_level": null,
"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": "ENST00000674791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "n.602G>A",
"hgvs_p": null,
"transcript": "ENST00000674909.1",
"protein_id": "ENSP00000502812.1",
"transcript_support_level": null,
"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": "ENST00000674909.1"
}
],
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"dbsnp": "rs41281027",
"frequency_reference_population": 0.0001987896,
"hom_count_reference_population": 1,
"allele_count_reference_population": 315,
"gnomad_exomes_af": 0.000108134,
"gnomad_genomes_af": 0.00105836,
"gnomad_exomes_ac": 155,
"gnomad_genomes_ac": 160,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003772139549255371,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0751,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.252,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001701.4",
"gene_symbol": "BAAT",
"hgnc_id": 932,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His"
}
],
"clinvar_disease": "BAAT-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not specified|BAAT-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}