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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: 7-87550493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87550493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87550493,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000622132.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Ser400Asn",
"transcript": "NM_001348946.2",
"protein_id": "NP_001335875.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": "ENST00000622132.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Ser400Asn",
"transcript": "ENST00000622132.5",
"protein_id": "ENSP00000478255.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": "NM_001348946.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Ser400Asn",
"transcript": "ENST00000265724.8",
"protein_id": "ENSP00000265724.3",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1409G>A",
"hgvs_p": "p.Ser470Asn",
"transcript": "NM_001348945.2",
"protein_id": "NP_001335874.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1350,
"cds_start": 1409,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Ser400Asn",
"transcript": "NM_000927.5",
"protein_id": "NP_000918.2",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Ser400Asn",
"transcript": "NM_001348944.2",
"protein_id": "NP_001335873.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Ser336Asn",
"transcript": "ENST00000543898.5",
"protein_id": "ENSP00000444095.1",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1007,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCB1",
"gene_hgnc_id": 40,
"dbsnp": "rs2229109",
"frequency_reference_population": 0.03211934,
"hom_count_reference_population": 1007,
"allele_count_reference_population": 51811,
"gnomad_exomes_af": 0.0327938,
"gnomad_genomes_af": 0.0256498,
"gnomad_exomes_ac": 47905,
"gnomad_genomes_ac": 3906,
"gnomad_exomes_homalt": 927,
"gnomad_genomes_homalt": 80,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008169949054718018,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.1297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.07,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000622132.5",
"gene_symbol": "ABCB1",
"hgnc_id": 40,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Ser400Asn"
}
],
"clinvar_disease": "ABCB1-related disorder,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|ABCB1-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}