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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: 1-78891640-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78891640&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 78891640,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022159.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1894A>G",
"hgvs_p": "p.Ile632Val",
"transcript": "NM_022159.4",
"protein_id": "NP_071442.2",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 690,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": "ENST00000370742.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022159.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1894A>G",
"hgvs_p": "p.Ile632Val",
"transcript": "ENST00000370742.4",
"protein_id": "ENSP00000359778.3",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 690,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": "NM_022159.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370742.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1924A>G",
"hgvs_p": "p.Ile642Val",
"transcript": "ENST00000954023.1",
"protein_id": "ENSP00000624082.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 700,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954023.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1825A>G",
"hgvs_p": "p.Ile609Val",
"transcript": "ENST00000870763.1",
"protein_id": "ENSP00000540822.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 667,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870763.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1792A>G",
"hgvs_p": "p.Ile598Val",
"transcript": "ENST00000870761.1",
"protein_id": "ENSP00000540820.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 656,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870761.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1759A>G",
"hgvs_p": "p.Ile587Val",
"transcript": "ENST00000655029.1",
"protein_id": "ENSP00000499618.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 645,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655029.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1759A>G",
"hgvs_p": "p.Ile587Val",
"transcript": "ENST00000656841.1",
"protein_id": "ENSP00000499228.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 645,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656841.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1759A>G",
"hgvs_p": "p.Ile587Val",
"transcript": "ENST00000661030.1",
"protein_id": "ENSP00000499792.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 645,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661030.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1744A>G",
"hgvs_p": "p.Ile582Val",
"transcript": "ENST00000870762.1",
"protein_id": "ENSP00000540821.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 640,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870762.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1720A>G",
"hgvs_p": "p.Ile574Val",
"transcript": "ENST00000671209.1",
"protein_id": "ENSP00000499515.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 632,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671209.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1690A>G",
"hgvs_p": "p.Ile564Val",
"transcript": "ENST00000954025.1",
"protein_id": "ENSP00000624084.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 622,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954025.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.1516A>G",
"hgvs_p": "p.Ile506Val",
"transcript": "ENST00000954024.1",
"protein_id": "ENSP00000624083.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 564,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954024.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Ile90Val",
"transcript": "ENST00000401034.7",
"protein_id": "ENSP00000383813.3",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 149,
"cds_start": 268,
"cds_end": null,
"cds_length": 450,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401034.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*827A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640664.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.928A>G",
"hgvs_p": null,
"transcript": "ENST00000661361.1",
"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": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661361.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*800A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000662895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*827A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640664.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"hgvs_c": "n.*800A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000662895.1"
}
],
"gene_symbol": "ADGRL4",
"gene_hgnc_id": 20822,
"dbsnp": "rs763998637",
"frequency_reference_population": 0.000016117974,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000171109,
"gnomad_genomes_af": 0.0000065767,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19254207611083984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.203,
"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_022159.4",
"gene_symbol": "ADGRL4",
"hgnc_id": 20822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1894A>G",
"hgvs_p": "p.Ile632Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}