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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: 7-87550285-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87550285&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87550285,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001348945.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "NM_001348946.2",
"protein_id": "NP_001335875.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000622132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348946.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000622132.5",
"protein_id": "ENSP00000478255.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348946.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622132.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000265724.8",
"protein_id": "ENSP00000265724.3",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265724.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1446T>C",
"hgvs_p": "p.Gly482Gly",
"transcript": "NM_001348945.2",
"protein_id": "NP_001335874.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1350,
"cds_start": 1446,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348945.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "NM_000927.5",
"protein_id": "NP_000918.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000927.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "NM_001348944.2",
"protein_id": "NP_001335873.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348944.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000890305.1",
"protein_id": "ENSP00000560364.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890305.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000961093.1",
"protein_id": "ENSP00000631152.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961093.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000961094.1",
"protein_id": "ENSP00000631153.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961094.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1233T>C",
"hgvs_p": "p.Gly411Gly",
"transcript": "ENST00000890301.1",
"protein_id": "ENSP00000560360.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1279,
"cds_start": 1233,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890301.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000890297.1",
"protein_id": "ENSP00000560356.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1252,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890297.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1125T>C",
"hgvs_p": "p.Gly375Gly",
"transcript": "ENST00000890303.1",
"protein_id": "ENSP00000560362.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1243,
"cds_start": 1125,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890303.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1122T>C",
"hgvs_p": "p.Gly374Gly",
"transcript": "ENST00000890302.1",
"protein_id": "ENSP00000560361.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1122,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890302.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000890304.1",
"protein_id": "ENSP00000560363.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1236,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890304.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000890300.1",
"protein_id": "ENSP00000560359.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890300.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Gly412Gly",
"transcript": "ENST00000890299.1",
"protein_id": "ENSP00000560358.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1236,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890299.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1044T>C",
"hgvs_p": "p.Gly348Gly",
"transcript": "ENST00000543898.5",
"protein_id": "ENSP00000444095.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1044,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543898.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1032T>C",
"hgvs_p": "p.Gly344Gly",
"transcript": "ENST00000890298.1",
"protein_id": "ENSP00000560357.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 1212,
"cds_start": 1032,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "n.-127T>C",
"hgvs_p": null,
"transcript": "ENST00000482527.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000482527.1"
}
],
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"dbsnp": "rs1128503",
"frequency_reference_population": 0.5587765,
"hom_count_reference_population": 256993,
"allele_count_reference_population": 901730,
"gnomad_exomes_af": 0.552517,
"gnomad_genomes_af": 0.618981,
"gnomad_exomes_ac": 807661,
"gnomad_genomes_ac": 94069,
"gnomad_exomes_homalt": 226668,
"gnomad_genomes_homalt": 30325,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.153,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001348945.2",
"gene_symbol": "ABCB1",
"hgnc_id": 40,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1446T>C",
"hgvs_p": "p.Gly482Gly"
}
],
"clinvar_disease": "ABCB1-related disorder,Tramadol response,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided|Tramadol response|ABCB1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}