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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: 11-61720707-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61720707&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DAGLA",
"hgnc_id": 1165,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_006133.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 3,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.3039,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7686492204666138,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5799,
"cdna_start": 282,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006133.3",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257215.10",
"protein_coding": true,
"protein_id": "NP_006124.1",
"strand": true,
"transcript": "NM_006133.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5799,
"cdna_start": 282,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000257215.10",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006133.3",
"protein_coding": true,
"protein_id": "ENSP00000257215.5",
"strand": true,
"transcript": "ENST00000257215.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 259,
"cds_end": null,
"cds_length": 3207,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000875660.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545719.1",
"strand": true,
"transcript": "ENST00000875660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 441,
"cds_end": null,
"cds_length": 3150,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939714.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609773.1",
"strand": true,
"transcript": "ENST00000939714.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5816,
"cdna_start": 279,
"cds_end": null,
"cds_length": 3150,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971001.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641060.1",
"strand": true,
"transcript": "ENST00000971001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 506,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000875661.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545720.1",
"strand": true,
"transcript": "ENST00000875661.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5981,
"cdna_start": 462,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939713.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609772.1",
"strand": true,
"transcript": "ENST00000939713.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": 246,
"cds_end": null,
"cds_length": 3045,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971002.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641061.1",
"strand": true,
"transcript": "ENST00000971002.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": 437,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427540.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283496.1",
"strand": true,
"transcript": "XM_047427540.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5783,
"cdna_start": 266,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427541.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283497.1",
"strand": true,
"transcript": "XM_047427541.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5740,
"cdna_start": 223,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427542.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283498.1",
"strand": true,
"transcript": "XM_047427542.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": 189,
"cds_end": null,
"cds_length": 3129,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427543.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283499.1",
"strand": true,
"transcript": "XM_047427543.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 612,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 437,
"cds_end": null,
"cds_length": 1839,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047427545.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283501.1",
"strand": true,
"transcript": "XM_047427545.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 956,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5587,
"cdna_start": null,
"cds_end": null,
"cds_length": 2871,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427544.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "c.49+457G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283500.1",
"strand": true,
"transcript": "XM_047427544.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540717.1",
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"hgvs_c": "n.124G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440264.1",
"strand": true,
"transcript": "ENST00000540717.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs776542702",
"effect": "missense_variant",
"frequency_reference_population": 0.0000018590424,
"gene_hgnc_id": 1165,
"gene_symbol": "DAGLA",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136842,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657065,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.253,
"pos": 61720707,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.308,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.25,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.25,
"transcript": "NM_006133.3"
}
]
}