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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: 10-102109622-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102109622&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102109622,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001113407.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile",
"transcript": "NM_001113407.3",
"protein_id": "NP_001106878.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 411,
"cds_start": 710,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673968.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113407.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile",
"transcript": "ENST00000673968.1",
"protein_id": "ENSP00000501277.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 411,
"cds_start": 710,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001113407.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673968.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.602A>T",
"hgvs_p": "p.Asn201Ile",
"transcript": "ENST00000361198.9",
"protein_id": "ENSP00000354616.5",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 375,
"cds_start": 602,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361198.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile",
"transcript": "NM_001321612.2",
"protein_id": "NP_001308541.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 409,
"cds_start": 710,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321612.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile",
"transcript": "ENST00000425280.2",
"protein_id": "ENSP00000392466.2",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 409,
"cds_start": 710,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425280.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.602A>T",
"hgvs_p": "p.Asn201Ile",
"transcript": "NM_003893.5",
"protein_id": "NP_003884.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 375,
"cds_start": 602,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003893.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.602A>T",
"hgvs_p": "p.Asn201Ile",
"transcript": "XM_047425979.1",
"protein_id": "XP_047281935.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 375,
"cds_start": 602,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425979.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.602A>T",
"hgvs_p": "p.Asn201Ile",
"transcript": "XM_047425980.1",
"protein_id": "XP_047281936.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 375,
"cds_start": 602,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425980.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile",
"transcript": "XM_017016867.2",
"protein_id": "XP_016872356.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 339,
"cds_start": 710,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016867.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile",
"transcript": "XM_017016868.2",
"protein_id": "XP_016872357.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 337,
"cds_start": 710,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016868.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "c.203A>T",
"hgvs_p": "p.Asn68Ile",
"transcript": "XM_017016869.2",
"protein_id": "XP_016872358.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 242,
"cds_start": 203,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016869.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"hgvs_c": "n.1282A>T",
"hgvs_p": null,
"transcript": "XR_001747255.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001747255.3"
}
],
"gene_symbol": "LDB1",
"gene_hgnc_id": 6532,
"dbsnp": "rs759369989",
"frequency_reference_population": 0.000002052166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205217,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.909899115562439,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.849,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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_001113407.3",
"gene_symbol": "LDB1",
"hgnc_id": 6532,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.710A>T",
"hgvs_p": "p.Asn237Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}