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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: 6-116558071-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116558071&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 116558071,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366078.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.805T>C",
"hgvs_p": "p.Cys269Arg",
"transcript": "NM_001366078.2",
"protein_id": "NP_001353007.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 314,
"cds_start": 805,
"cds_end": null,
"cds_length": 945,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": "ENST00000368596.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366078.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.805T>C",
"hgvs_p": "p.Cys269Arg",
"transcript": "ENST00000368596.4",
"protein_id": "ENSP00000357585.3",
"transcript_support_level": 5,
"aa_start": 269,
"aa_end": null,
"aa_length": 314,
"cds_start": 805,
"cds_end": null,
"cds_length": 945,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": "NM_001366078.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368596.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Cys126Arg",
"transcript": "ENST00000405399.5",
"protein_id": "ENSP00000385836.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405399.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Cys83Arg",
"transcript": "ENST00000368597.6",
"protein_id": "ENSP00000357586.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 128,
"cds_start": 247,
"cds_end": null,
"cds_length": 387,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368597.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Cys126Arg",
"transcript": "NM_001256887.3",
"protein_id": "NP_001243816.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256887.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Cys125Arg",
"transcript": "NM_001256888.3",
"protein_id": "NP_001243817.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 170,
"cds_start": 373,
"cds_end": null,
"cds_length": 513,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256888.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Cys125Arg",
"transcript": "ENST00000628083.1",
"protein_id": "ENSP00000487169.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 170,
"cds_start": 373,
"cds_end": null,
"cds_length": 513,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628083.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Cys83Arg",
"transcript": "NM_001256889.3",
"protein_id": "NP_001243818.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 128,
"cds_start": 247,
"cds_end": null,
"cds_length": 387,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256889.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Cys83Arg",
"transcript": "NM_153036.5",
"protein_id": "NP_694581.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 128,
"cds_start": 247,
"cds_end": null,
"cds_length": 387,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153036.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Cys83Arg",
"transcript": "ENST00000452373.5",
"protein_id": "ENSP00000409556.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 122,
"cds_start": 247,
"cds_end": null,
"cds_length": 370,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452373.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Cys170Arg",
"transcript": "XM_017010390.2",
"protein_id": "XP_016865879.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 508,
"cds_end": null,
"cds_length": 648,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010390.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Cys155Arg",
"transcript": "XM_017010391.2",
"protein_id": "XP_016865880.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 200,
"cds_start": 463,
"cds_end": null,
"cds_length": 603,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010391.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "XM_011535560.3",
"protein_id": "XP_011533862.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 185,
"cds_start": 418,
"cds_end": null,
"cds_length": 558,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535560.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "XM_011535561.3",
"protein_id": "XP_011533863.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 185,
"cds_start": 418,
"cds_end": null,
"cds_length": 558,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535561.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "XM_011535562.3",
"protein_id": "XP_011533864.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 185,
"cds_start": 418,
"cds_end": null,
"cds_length": 558,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535562.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "XM_011535563.3",
"protein_id": "XP_011533865.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 185,
"cds_start": 418,
"cds_end": null,
"cds_length": 558,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535563.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "XM_011535564.2",
"protein_id": "XP_011533866.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 185,
"cds_start": 418,
"cds_end": null,
"cds_length": 558,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535564.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "XM_017010392.2",
"protein_id": "XP_016865881.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 185,
"cds_start": 418,
"cds_end": null,
"cds_length": 558,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010392.2"
}
],
"gene_symbol": "CALHM4",
"gene_hgnc_id": 21094,
"dbsnp": "rs745656482",
"frequency_reference_population": 0.0000013681145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.048340559005737305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.1652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.839,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001366078.2",
"gene_symbol": "CALHM4",
"hgnc_id": 21094,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.805T>C",
"hgvs_p": "p.Cys269Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}