← Back to variant description
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: 12-7368945-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7368945&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7368945,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000313599.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.4060A>G",
"hgvs_p": "p.Asn1354Asp",
"transcript": "NM_174941.6",
"protein_id": "NP_777601.3",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4086,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": "ENST00000313599.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.4060A>G",
"hgvs_p": "p.Asn1354Asp",
"transcript": "ENST00000313599.8",
"protein_id": "ENSP00000315945.3",
"transcript_support_level": 1,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4086,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": "NM_174941.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.4090A>G",
"hgvs_p": "p.Asn1364Asp",
"transcript": "NM_001297650.2",
"protein_id": "NP_001284579.2",
"transcript_support_level": null,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4090,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4116,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.4090A>G",
"hgvs_p": "p.Asn1364Asp",
"transcript": "ENST00000416109.2",
"protein_id": "ENSP00000393474.2",
"transcript_support_level": 2,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4090,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4109,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Asn9Asp",
"transcript": "ENST00000539726.5",
"protein_id": "ENSP00000438217.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 108,
"cds_start": 25,
"cds_end": null,
"cds_length": 327,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.3985A>G",
"hgvs_p": "p.Asn1329Asp",
"transcript": "XM_011520617.3",
"protein_id": "XP_011518919.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.4060A>G",
"hgvs_p": "p.Asn1354Asp",
"transcript": "XM_011520616.2",
"protein_id": "XP_011518918.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1421,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4086,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.3343A>G",
"hgvs_p": "p.Asn1115Asp",
"transcript": "XM_011520618.4",
"protein_id": "XP_011518920.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3343,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.3247A>G",
"hgvs_p": "p.Asn1083Asp",
"transcript": "XM_011520619.2",
"protein_id": "XP_011518921.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.3247A>G",
"hgvs_p": "p.Asn1083Asp",
"transcript": "XM_011520620.2",
"protein_id": "XP_011518922.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "c.1999A>G",
"hgvs_p": "p.Asn667Asp",
"transcript": "XM_011520621.4",
"protein_id": "XP_011518923.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 766,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.158A>G",
"hgvs_p": null,
"transcript": "ENST00000545597.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.25A>G",
"hgvs_p": null,
"transcript": "ENST00000546182.1",
"protein_id": "ENSP00000443004.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.4086A>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.4086A>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"hgvs_c": "n.4086A>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD163L1",
"gene_hgnc_id": 30375,
"dbsnp": "rs1947083685",
"frequency_reference_population": 0.000003098911,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000027367,
"gnomad_genomes_af": 0.0000065851,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09545385837554932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0846,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.451,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000313599.8",
"gene_symbol": "CD163L1",
"hgnc_id": 30375,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.4060A>G",
"hgvs_p": "p.Asn1354Asp"
}
],
"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
}