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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: 16-48175312-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=48175312&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 48175312,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001370496.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "NM_001370497.1",
"protein_id": "NP_001357426.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356608.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370497.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "ENST00000356608.7",
"protein_id": "ENSP00000349017.2",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370497.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356608.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "ENST00000394747.5",
"protein_id": "ENSP00000378230.1",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394747.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "ENST00000394748.5",
"protein_id": "ENSP00000378231.1",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394748.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "ENST00000353782.9",
"protein_id": "ENSP00000311326.6",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353782.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "n.944G>T",
"hgvs_p": null,
"transcript": "ENST00000565329.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000565329.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3650G>T",
"hgvs_p": "p.Arg1217Leu",
"transcript": "NM_001370496.1",
"protein_id": "NP_001357425.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3650,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370496.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "NM_032583.4",
"protein_id": "NP_115972.2",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032583.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "NM_033151.4",
"protein_id": "NP_149163.2",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033151.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "NM_145186.3",
"protein_id": "NP_660187.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145186.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "XM_017023797.3",
"protein_id": "XP_016879286.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023797.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "XM_017023798.3",
"protein_id": "XP_016879287.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023798.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "XM_017023799.3",
"protein_id": "XP_016879288.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023799.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3644G>T",
"hgvs_p": "p.Arg1215Leu",
"transcript": "XM_017023800.3",
"protein_id": "XP_016879289.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3644,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023800.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.3536G>T",
"hgvs_p": "p.Arg1179Leu",
"transcript": "XM_017023801.3",
"protein_id": "XP_016879290.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3536,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023801.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.2687G>T",
"hgvs_p": "p.Arg896Leu",
"transcript": "XM_017023802.3",
"protein_id": "XP_016879291.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023802.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.2687G>T",
"hgvs_p": "p.Arg896Leu",
"transcript": "XM_024450475.2",
"protein_id": "XP_024306243.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450475.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "c.1775G>T",
"hgvs_p": "p.Arg592Leu",
"transcript": "XM_011523398.4",
"protein_id": "XP_011521700.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 759,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523398.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"hgvs_c": "n.4042G>T",
"hgvs_p": null,
"transcript": "XR_007064925.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007064925.1"
}
],
"gene_symbol": "ABCC11",
"gene_hgnc_id": 14639,
"dbsnp": "rs572621805",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9889187812805176,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.796,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.284,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001370496.1",
"gene_symbol": "ABCC11",
"hgnc_id": 14639,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3650G>T",
"hgvs_p": "p.Arg1217Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}