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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: 12-7369636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7369636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7369636,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001297650.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3760G>A",
"hgvs_p": "p.Glu1254Lys",
"transcript": "NM_174941.6",
"protein_id": "NP_777601.3",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3760,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313599.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174941.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3760G>A",
"hgvs_p": "p.Glu1254Lys",
"transcript": "ENST00000313599.8",
"protein_id": "ENSP00000315945.3",
"transcript_support_level": 1,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3760,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174941.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313599.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys",
"transcript": "NM_001297650.2",
"protein_id": "NP_001284579.2",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297650.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys",
"transcript": "ENST00000416109.2",
"protein_id": "ENSP00000393474.2",
"transcript_support_level": 2,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416109.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys",
"transcript": "ENST00000878199.1",
"protein_id": "ENSP00000548258.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878199.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3760G>A",
"hgvs_p": "p.Glu1254Lys",
"transcript": "ENST00000878198.1",
"protein_id": "ENSP00000548257.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3760,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878198.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3667G>A",
"hgvs_p": "p.Glu1223Lys",
"transcript": "ENST00000948251.1",
"protein_id": "ENSP00000618310.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948251.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3685G>A",
"hgvs_p": "p.Glu1229Lys",
"transcript": "XM_011520617.3",
"protein_id": "XP_011518919.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3685,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520617.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3760G>A",
"hgvs_p": "p.Glu1254Lys",
"transcript": "XM_011520616.2",
"protein_id": "XP_011518918.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3760,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520616.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "XM_011520618.4",
"protein_id": "XP_011518920.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520618.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.2947G>A",
"hgvs_p": "p.Glu983Lys",
"transcript": "XM_011520619.2",
"protein_id": "XP_011518921.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2947,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520619.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.2947G>A",
"hgvs_p": "p.Glu983Lys",
"transcript": "XM_011520620.2",
"protein_id": "XP_011518922.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2947,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520620.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "XM_011520621.4",
"protein_id": "XP_011518923.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 766,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520621.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.3786G>A",
"hgvs_p": null,
"transcript": "XR_007063067.1",
"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_007063067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.3786G>A",
"hgvs_p": null,
"transcript": "XR_007063068.1",
"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_007063068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.3786G>A",
"hgvs_p": null,
"transcript": "XR_931282.3",
"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_931282.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.-143G>A",
"hgvs_p": null,
"transcript": "ENST00000545597.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000545597.1"
}
],
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"dbsnp": "rs138733121",
"frequency_reference_population": 0.00022118165,
"hom_count_reference_population": 0,
"allele_count_reference_population": 357,
"gnomad_exomes_af": 0.000193599,
"gnomad_genomes_af": 0.000485966,
"gnomad_exomes_ac": 283,
"gnomad_genomes_ac": 74,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0094432532787323,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.004,
"revel_prediction": "Benign",
"alphamissense_score": 0.0709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.85,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001297650.2",
"gene_symbol": "CD163L1",
"hgnc_id": 30375,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}