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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: 2-43872296-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43872296&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43872296,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022437.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1201A>T",
"hgvs_p": "p.Thr401Ser",
"transcript": "NM_022437.3",
"protein_id": "NP_071882.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 673,
"cds_start": 1201,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272286.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022437.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1201A>T",
"hgvs_p": "p.Thr401Ser",
"transcript": "ENST00000272286.4",
"protein_id": "ENSP00000272286.2",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 673,
"cds_start": 1201,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022437.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272286.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1201A>T",
"hgvs_p": "p.Thr401Ser",
"transcript": "ENST00000881895.1",
"protein_id": "ENSP00000551954.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 678,
"cds_start": 1201,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881895.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1198A>T",
"hgvs_p": "p.Thr400Ser",
"transcript": "ENST00000881900.1",
"protein_id": "ENSP00000551959.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 677,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881900.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1198A>T",
"hgvs_p": "p.Thr400Ser",
"transcript": "NM_001357321.2",
"protein_id": "NP_001344250.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 672,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357321.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1198A>T",
"hgvs_p": "p.Thr400Ser",
"transcript": "ENST00000881893.1",
"protein_id": "ENSP00000551952.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 672,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881893.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1189A>T",
"hgvs_p": "p.Thr397Ser",
"transcript": "ENST00000881902.1",
"protein_id": "ENSP00000551961.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 669,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881902.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1180A>T",
"hgvs_p": "p.Thr394Ser",
"transcript": "ENST00000881896.1",
"protein_id": "ENSP00000551955.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 666,
"cds_start": 1180,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881896.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"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": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1177A>T",
"hgvs_p": "p.Thr393Ser",
"transcript": "ENST00000881899.1",
"protein_id": "ENSP00000551958.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 665,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881899.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1099A>T",
"hgvs_p": "p.Thr367Ser",
"transcript": "ENST00000881897.1",
"protein_id": "ENSP00000551956.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 639,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881897.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Thr277Ser",
"transcript": "ENST00000881901.1",
"protein_id": "ENSP00000551960.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 549,
"cds_start": 829,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881901.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.826A>T",
"hgvs_p": "p.Thr276Ser",
"transcript": "ENST00000881894.1",
"protein_id": "ENSP00000551953.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 548,
"cds_start": 826,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881894.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.559A>T",
"hgvs_p": "p.Thr187Ser",
"transcript": "ENST00000881898.1",
"protein_id": "ENSP00000551957.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 459,
"cds_start": 559,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881898.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1213A>T",
"hgvs_p": "p.Thr405Ser",
"transcript": "ENST00000644611.1",
"protein_id": "ENSP00000495423.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 454,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644611.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"hgvs_c": "c.1127+158A>T",
"hgvs_p": null,
"transcript": "ENST00000881892.1",
"protein_id": "ENSP00000551951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881892.1"
}
],
"gene_symbol": "ABCG8",
"gene_hgnc_id": 13887,
"dbsnp": "rs144200355",
"frequency_reference_population": 0.0020691117,
"hom_count_reference_population": 16,
"allele_count_reference_population": 3339,
"gnomad_exomes_af": 0.00210261,
"gnomad_genomes_af": 0.00174745,
"gnomad_exomes_ac": 3073,
"gnomad_genomes_ac": 266,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015889763832092285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.1125,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.884,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022437.3",
"gene_symbol": "ABCG8",
"hgnc_id": 13887,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1201A>T",
"hgvs_p": "p.Thr401Ser"
}
],
"clinvar_disease": "ABCG8-related disorder,Cardiovascular phenotype,Gallbladder disease 4,Sitosterolemia,Sitosterolemia 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:4 B:1",
"phenotype_combined": "not provided|Sitosterolemia;Gallbladder disease 4|Sitosterolemia 1|Cardiovascular phenotype|ABCG8-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}