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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: 12-64737039-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64737039&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64737039,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002076.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "NM_002076.4",
"protein_id": "NP_002067.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 552,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258145.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002076.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "ENST00000258145.8",
"protein_id": "ENSP00000258145.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 552,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002076.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258145.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Arg299Gly",
"transcript": "ENST00000418919.6",
"protein_id": "ENSP00000413130.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418919.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1177C>G",
"hgvs_p": "p.Arg393Gly",
"transcript": "ENST00000967913.1",
"protein_id": "ENSP00000637972.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 590,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967913.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000967915.1",
"protein_id": "ENSP00000637974.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 589,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967915.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1159C>G",
"hgvs_p": "p.Arg387Gly",
"transcript": "ENST00000543646.5",
"protein_id": "ENSP00000438497.1",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 584,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543646.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "ENST00000905555.1",
"protein_id": "ENSP00000575614.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 550,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905555.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1057C>G",
"hgvs_p": "p.Arg353Gly",
"transcript": "ENST00000967914.1",
"protein_id": "ENSP00000637973.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 550,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967914.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1006C>G",
"hgvs_p": "p.Arg336Gly",
"transcript": "ENST00000905554.1",
"protein_id": "ENSP00000575613.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 533,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905554.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Arg335Gly",
"transcript": "ENST00000542058.5",
"protein_id": "ENSP00000444819.1",
"transcript_support_level": 2,
"aa_start": 335,
"aa_end": null,
"aa_length": 532,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542058.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "ENST00000905553.1",
"protein_id": "ENSP00000575612.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 516,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905553.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "ENST00000967916.1",
"protein_id": "ENSP00000637975.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 514,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967916.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "ENST00000967918.1",
"protein_id": "ENSP00000637977.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 482,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967918.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Arg174Gly",
"transcript": "ENST00000540196.5",
"protein_id": "ENSP00000437782.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 301,
"cds_start": 520,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.792+6102C>G",
"hgvs_p": null,
"transcript": "ENST00000905556.1",
"protein_id": "ENSP00000575615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.792+6102C>G",
"hgvs_p": null,
"transcript": "ENST00000967917.1",
"protein_id": "ENSP00000637976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967917.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "c.253-7982C>G",
"hgvs_p": null,
"transcript": "ENST00000967912.1",
"protein_id": "ENSP00000637971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"hgvs_c": "n.1118C>G",
"hgvs_p": null,
"transcript": "ENST00000541781.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000541781.5"
}
],
"gene_symbol": "GNS",
"gene_hgnc_id": 4422,
"dbsnp": "rs119461974",
"frequency_reference_population": 6.900816e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90082e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.905846357345581,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.921,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7608,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.554,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002076.4",
"gene_symbol": "GNS",
"hgnc_id": 4422,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}