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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: 2-37092011-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37092011&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 37092011,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001371856.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "NM_174931.4",
"protein_id": "NP_777591.4",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 263,
"cds_start": 424,
"cds_end": null,
"cds_length": 792,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": "ENST00000674370.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174931.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "ENST00000674370.2",
"protein_id": "ENSP00000501347.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 263,
"cds_start": 424,
"cds_end": null,
"cds_length": 792,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": "NM_174931.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674370.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"transcript": "ENST00000281932.6",
"protein_id": "ENSP00000281932.6",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 127,
"cds_start": 16,
"cds_end": null,
"cds_length": 384,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281932.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "NM_001371856.3",
"protein_id": "NP_001358785.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 271,
"cds_start": 424,
"cds_end": null,
"cds_length": 816,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371856.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "ENST00000964376.1",
"protein_id": "ENSP00000634435.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 271,
"cds_start": 424,
"cds_end": null,
"cds_length": 816,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964376.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "NM_001371858.3",
"protein_id": "NP_001358787.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 263,
"cds_start": 424,
"cds_end": null,
"cds_length": 792,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371858.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "NM_001371859.3",
"protein_id": "NP_001358788.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 263,
"cds_start": 424,
"cds_end": null,
"cds_length": 792,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371859.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "ENST00000964377.1",
"protein_id": "ENSP00000634436.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 263,
"cds_start": 424,
"cds_end": null,
"cds_length": 792,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964377.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.421G>C",
"hgvs_p": "p.Glu141Gln",
"transcript": "NM_001371860.3",
"protein_id": "NP_001358789.2",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 262,
"cds_start": 421,
"cds_end": null,
"cds_length": 789,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371860.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.421G>C",
"hgvs_p": "p.Glu141Gln",
"transcript": "NM_001371861.3",
"protein_id": "NP_001358790.2",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 262,
"cds_start": 421,
"cds_end": null,
"cds_length": 789,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371861.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln",
"transcript": "NM_001371862.3",
"protein_id": "NP_001358791.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 260,
"cds_start": 424,
"cds_end": null,
"cds_length": 783,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371862.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Glu128Gln",
"transcript": "NM_001322249.4",
"protein_id": "NP_001309178.3",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 249,
"cds_start": 382,
"cds_end": null,
"cds_length": 750,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322249.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "c.103G>C",
"hgvs_p": "p.Glu35Gln",
"transcript": "NM_001278505.2",
"protein_id": "NP_001265434.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 156,
"cds_start": 103,
"cds_end": null,
"cds_length": 471,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278505.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "n.173G>C",
"hgvs_p": null,
"transcript": "ENST00000473067.1",
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "n.490G>C",
"hgvs_p": null,
"transcript": "NR_163986.1",
"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": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"hgvs_c": "n.221G>C",
"hgvs_p": null,
"transcript": "NR_163987.1",
"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": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163987.1"
}
],
"gene_symbol": "GPATCH11",
"gene_hgnc_id": 26768,
"dbsnp": "rs142169254",
"frequency_reference_population": 6.84488e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84488e-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": 0.11945539712905884,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.1111,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.67,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "NM_001371856.3",
"gene_symbol": "GPATCH11",
"hgnc_id": 26768,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Glu142Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}