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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: 2-62000964-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=62000964&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 62000964,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152516.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "NM_152516.4",
"protein_id": "NP_689729.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 190,
"cds_start": 444,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311832.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152516.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "ENST00000311832.6",
"protein_id": "ENSP00000308236.5",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 190,
"cds_start": 444,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152516.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311832.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "n.476A>C",
"hgvs_p": null,
"transcript": "ENST00000471704.1",
"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": "retained_intron",
"feature": "ENST00000471704.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.537A>C",
"hgvs_p": "p.Glu179Asp",
"transcript": "ENST00000897153.1",
"protein_id": "ENSP00000567212.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 221,
"cds_start": 537,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897153.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "ENST00000897150.1",
"protein_id": "ENSP00000567209.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 190,
"cds_start": 444,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897150.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "ENST00000897151.1",
"protein_id": "ENSP00000567210.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 190,
"cds_start": 444,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897151.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "ENST00000897152.1",
"protein_id": "ENSP00000567211.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 190,
"cds_start": 444,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897152.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "ENST00000961074.1",
"protein_id": "ENSP00000631133.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 190,
"cds_start": 444,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961074.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.390A>C",
"hgvs_p": "p.Glu130Asp",
"transcript": "ENST00000897154.1",
"protein_id": "ENSP00000567213.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 172,
"cds_start": 390,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897154.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.246A>C",
"hgvs_p": "p.Glu82Asp",
"transcript": "NM_001321781.3",
"protein_id": "NP_001308710.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 124,
"cds_start": 246,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321781.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.246A>C",
"hgvs_p": "p.Glu82Asp",
"transcript": "NM_001321782.3",
"protein_id": "NP_001308711.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 124,
"cds_start": 246,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321782.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.246A>C",
"hgvs_p": "p.Glu82Asp",
"transcript": "NM_001371765.2",
"protein_id": "NP_001358694.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 124,
"cds_start": 246,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371765.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp",
"transcript": "XM_011532558.3",
"protein_id": "XP_011530860.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 160,
"cds_start": 444,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532558.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.267A>C",
"hgvs_p": "p.Glu89Asp",
"transcript": "XM_011532559.3",
"protein_id": "XP_011530861.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 131,
"cds_start": 267,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532559.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.246A>C",
"hgvs_p": "p.Glu82Asp",
"transcript": "XM_017003412.2",
"protein_id": "XP_016858901.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 124,
"cds_start": 246,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "n.383A>C",
"hgvs_p": null,
"transcript": "ENST00000472729.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000472729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.-16A>C",
"hgvs_p": null,
"transcript": "ENST00000427417.1",
"protein_id": "ENSP00000413207.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "c.-16A>C",
"hgvs_p": null,
"transcript": "ENST00000458337.5",
"protein_id": "ENSP00000401236.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458337.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "n.*89A>C",
"hgvs_p": null,
"transcript": "ENST00000445644.5",
"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": "pseudogene",
"feature": "ENST00000445644.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"hgvs_c": "n.*353A>C",
"hgvs_p": null,
"transcript": "ENST00000455659.1",
"protein_id": "ENSP00000398727.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000455659.1"
}
],
"gene_symbol": "COMMD1",
"gene_hgnc_id": 23024,
"dbsnp": "rs199574434",
"frequency_reference_population": 0.000001239592,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84369e-7,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.698150098323822,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.6128,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.815,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152516.4",
"gene_symbol": "COMMD1",
"hgnc_id": 23024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.444A>C",
"hgvs_p": "p.Glu148Asp"
}
],
"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
}