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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: 1-78893142-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78893142&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 78893142,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000370742.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1797C>A",
"hgvs_p": "p.His599Gln",
"transcript": "NM_022159.4",
"protein_id": "NP_071442.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 690,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": "ENST00000370742.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1797C>A",
"hgvs_p": "p.His599Gln",
"transcript": "ENST00000370742.4",
"protein_id": "ENSP00000359778.3",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 690,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": "NM_022159.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1662C>A",
"hgvs_p": "p.His554Gln",
"transcript": "ENST00000655029.1",
"protein_id": "ENSP00000499618.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 645,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1662C>A",
"hgvs_p": "p.His554Gln",
"transcript": "ENST00000656841.1",
"protein_id": "ENSP00000499228.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 645,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1662C>A",
"hgvs_p": "p.His554Gln",
"transcript": "ENST00000661030.1",
"protein_id": "ENSP00000499792.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 645,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1623C>A",
"hgvs_p": "p.His541Gln",
"transcript": "ENST00000671209.1",
"protein_id": "ENSP00000499515.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 632,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.His57Gln",
"transcript": "ENST00000401034.7",
"protein_id": "ENSP00000383813.3",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 149,
"cds_start": 171,
"cds_end": null,
"cds_length": 450,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*730C>A",
"hgvs_p": null,
"transcript": "ENST00000640664.2",
"protein_id": "ENSP00000491199.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.831C>A",
"hgvs_p": null,
"transcript": "ENST00000661361.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*703C>A",
"hgvs_p": null,
"transcript": "ENST00000662895.1",
"protein_id": "ENSP00000499579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*730C>A",
"hgvs_p": null,
"transcript": "ENST00000640664.2",
"protein_id": "ENSP00000491199.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*703C>A",
"hgvs_p": null,
"transcript": "ENST00000662895.1",
"protein_id": "ENSP00000499579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"dbsnp": "rs1968956",
"frequency_reference_population": 0.03311905,
"hom_count_reference_population": 1031,
"allele_count_reference_population": 53075,
"gnomad_exomes_af": 0.0341325,
"gnomad_genomes_af": 0.0233769,
"gnomad_exomes_ac": 49545,
"gnomad_genomes_ac": 3530,
"gnomad_exomes_homalt": 972,
"gnomad_genomes_homalt": 59,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008930951356887817,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.2927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.253,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000370742.4",
"gene_symbol": "ADGRL4",
"hgnc_id": 20822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1797C>A",
"hgvs_p": "p.His599Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}