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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: 8-24499305-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=24499305&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 24499305,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000175238.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM7",
"gene_hgnc_id": 214,
"hgvs_c": "c.1912A>C",
"hgvs_p": "p.Asn638His",
"transcript": "NM_003817.4",
"protein_id": "NP_003808.2",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 754,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": "ENST00000175238.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM7",
"gene_hgnc_id": 214,
"hgvs_c": "c.1912A>C",
"hgvs_p": "p.Asn638His",
"transcript": "ENST00000175238.10",
"protein_id": "ENSP00000175238.5",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 754,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": "NM_003817.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM7",
"gene_hgnc_id": 214,
"hgvs_c": "c.1228A>C",
"hgvs_p": "p.Asn410His",
"transcript": "ENST00000520720.1",
"protein_id": "ENSP00000430400.1",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 516,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM7",
"gene_hgnc_id": 214,
"hgvs_c": "c.1912A>C",
"hgvs_p": "p.Asn638His",
"transcript": "ENST00000380789.5",
"protein_id": "ENSP00000370166.1",
"transcript_support_level": 5,
"aa_start": 638,
"aa_end": null,
"aa_length": 776,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS2",
"gene_hgnc_id": 56153,
"hgvs_c": "n.407-7145T>G",
"hgvs_p": null,
"transcript": "ENST00000519364.5",
"protein_id": null,
"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": 902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.185-111314T>G",
"hgvs_p": null,
"transcript": "ENST00000519689.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.79+49235T>G",
"hgvs_p": null,
"transcript": "ENST00000523578.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS2",
"gene_hgnc_id": 56153,
"hgvs_c": "n.115-7145T>G",
"hgvs_p": null,
"transcript": "ENST00000835527.1",
"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": 605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS2",
"gene_hgnc_id": 56153,
"hgvs_c": "n.174-7145T>G",
"hgvs_p": null,
"transcript": "ENST00000835528.1",
"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": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS2",
"gene_hgnc_id": 56153,
"hgvs_c": "n.282-7145T>G",
"hgvs_p": null,
"transcript": "ENST00000835529.1",
"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": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS1",
"gene_hgnc_id": 56152,
"hgvs_c": "n.79+49235T>G",
"hgvs_p": null,
"transcript": "NR_125808.1",
"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": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADAM7-AS2",
"gene_hgnc_id": 56153,
"hgvs_c": "n.447-7145T>G",
"hgvs_p": null,
"transcript": "NR_125809.1",
"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": 942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM7",
"gene_hgnc_id": 214,
"dbsnp": "rs13259668",
"frequency_reference_population": 0.32721123,
"hom_count_reference_population": 87595,
"allele_count_reference_population": 522680,
"gnomad_exomes_af": 0.327073,
"gnomad_genomes_af": 0.328529,
"gnomad_exomes_ac": 472766,
"gnomad_genomes_ac": 49914,
"gnomad_exomes_homalt": 79202,
"gnomad_genomes_homalt": 8393,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00007763491157675162,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.548,
"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,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000175238.10",
"gene_symbol": "ADAM7",
"hgnc_id": 214,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1912A>C",
"hgvs_p": "p.Asn638His"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000519689.1",
"gene_symbol": "ADAM7-AS1",
"hgnc_id": 56152,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185-111314T>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_125809.1",
"gene_symbol": "ADAM7-AS2",
"hgnc_id": 56153,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.447-7145T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}