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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: 5-157509356-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=157509356&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAM19",
"hgnc_id": 197,
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Ser284Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_033274.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.2616,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16113713383674622,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 918,
"aa_ref": "S",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6481,
"cdna_start": 929,
"cds_end": null,
"cds_length": 2757,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_033274.5",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Ser284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257527.9",
"protein_coding": true,
"protein_id": "NP_150377.1",
"strand": false,
"transcript": "NM_033274.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 918,
"aa_ref": "S",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6481,
"cdna_start": 929,
"cds_end": null,
"cds_length": 2757,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000257527.9",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Ser284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033274.5",
"protein_coding": true,
"protein_id": "ENSP00000257527.5",
"strand": false,
"transcript": "ENST00000257527.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 955,
"aa_ref": "S",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 895,
"cds_end": null,
"cds_length": 2868,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000517905.1",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Ser284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428654.1",
"strand": false,
"transcript": "ENST00000517905.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 926,
"aa_ref": "S",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2781,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000957644.1",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Ser284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627703.1",
"strand": false,
"transcript": "ENST00000957644.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 896,
"aa_ref": "S",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6491,
"cdna_start": 946,
"cds_end": null,
"cds_length": 2691,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929677.1",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ser262Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599736.1",
"strand": false,
"transcript": "ENST00000929677.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": 572,
"cds_end": null,
"cds_length": 2421,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000929678.1",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.514A>C",
"hgvs_p": "p.Ser172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599737.1",
"strand": false,
"transcript": "ENST00000929678.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 955,
"aa_ref": "S",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 929,
"cds_end": null,
"cds_length": 2868,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047417858.1",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.850A>C",
"hgvs_p": "p.Ser284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273814.1",
"strand": false,
"transcript": "XM_047417858.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 651,
"aa_ref": "S",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7285,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047417859.1",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "c.49A>C",
"hgvs_p": "p.Ser17Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273815.1",
"strand": false,
"transcript": "XM_047417859.1",
"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": 2839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000517951.5",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "n.*41A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428376.1",
"strand": false,
"transcript": "ENST00000517951.5",
"transcript_support_level": 2
},
{
"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": 2839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000517951.5",
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"hgvs_c": "n.*41A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428376.1",
"strand": false,
"transcript": "ENST00000517951.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1422795",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020539223,
"gene_hgnc_id": 197,
"gene_symbol": "ADAM19",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205392,
"gnomad_exomes_homalt": 0,
"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": "Benign",
"phylop100way_score": -0.213,
"pos": 157509356,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.062,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_033274.5"
}
]
}