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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: 1-78917875-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78917875&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRL4",
"hgnc_id": 20822,
"hgvs_c": "c.1637G>C",
"hgvs_p": "p.Gly546Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_022159.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0805,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3471182882785797,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022159.4",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1637G>C",
"hgvs_p": "p.Gly546Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370742.4",
"protein_coding": true,
"protein_id": "NP_071442.2",
"strand": false,
"transcript": "NM_022159.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 690,
"aa_ref": "G",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000370742.4",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1637G>C",
"hgvs_p": "p.Gly546Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022159.4",
"protein_coding": true,
"protein_id": "ENSP00000359778.3",
"strand": false,
"transcript": "ENST00000370742.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954023.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Gly556Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624082.1",
"strand": false,
"transcript": "ENST00000954023.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 667,
"aa_ref": "G",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1637,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870763.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1637G>C",
"hgvs_p": "p.Gly546Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540822.1",
"strand": false,
"transcript": "ENST00000870763.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 656,
"aa_ref": "G",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870761.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Gly512Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540820.1",
"strand": false,
"transcript": "ENST00000870761.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000655029.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1502G>C",
"hgvs_p": "p.Gly501Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499618.1",
"strand": false,
"transcript": "ENST00000655029.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000656841.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1502G>C",
"hgvs_p": "p.Gly501Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499228.1",
"strand": false,
"transcript": "ENST00000656841.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000661030.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1502G>C",
"hgvs_p": "p.Gly501Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499792.1",
"strand": false,
"transcript": "ENST00000661030.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 640,
"aa_ref": "G",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1487,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870762.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Gly496Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540821.1",
"strand": false,
"transcript": "ENST00000870762.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 632,
"aa_ref": "G",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000671209.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1463G>C",
"hgvs_p": "p.Gly488Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499515.1",
"strand": false,
"transcript": "ENST00000671209.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 622,
"aa_ref": "G",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954025.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1433G>C",
"hgvs_p": "p.Gly478Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624084.1",
"strand": false,
"transcript": "ENST00000954025.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 564,
"aa_ref": "G",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000954024.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.1259G>C",
"hgvs_p": "p.Gly420Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624083.1",
"strand": false,
"transcript": "ENST00000954024.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 149,
"aa_ref": "G",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 501,
"cdna_start": 11,
"cds_end": null,
"cds_length": 450,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000401034.7",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Gly4Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383813.3",
"strand": false,
"transcript": "ENST00000401034.7",
"transcript_support_level": 5
},
{
"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": 3308,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000640664.2",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "n.*570G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491199.2",
"strand": false,
"transcript": "ENST00000640664.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000661361.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "n.671G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000661361.1",
"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": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000662895.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "n.*543G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499579.1",
"strand": false,
"transcript": "ENST00000662895.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000664452.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "n.259G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000664452.1",
"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": 3308,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000640664.2",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "n.*570G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491199.2",
"strand": false,
"transcript": "ENST00000640664.2",
"transcript_support_level": 5
},
{
"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": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000662895.1",
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"hgvs_c": "n.*543G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499579.1",
"strand": false,
"transcript": "ENST00000662895.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs765307430",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20822,
"gene_symbol": "ADGRL4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.328,
"pos": 78917875,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.117,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022159.4"
}
]
}