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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: 1-153679032-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153679032&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "NPR1",
"hgnc_id": 7943,
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_000906.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 8095,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1061,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": null,
"cds_end": null,
"cds_length": 3186,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_000906.4",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368680.4",
"protein_coding": true,
"protein_id": "NP_000897.3",
"strand": true,
"transcript": "NM_000906.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1061,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": null,
"cds_end": null,
"cds_length": 3186,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368680.4",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000906.4",
"protein_coding": true,
"protein_id": "ENSP00000357669.3",
"strand": true,
"transcript": "ENST00000368680.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1088,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": null,
"cds_end": null,
"cds_length": 3267,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955927.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625986.1",
"strand": true,
"transcript": "ENST00000955927.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1077,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": null,
"cds_end": null,
"cds_length": 3234,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000932961.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603020.1",
"strand": true,
"transcript": "ENST00000932961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1062,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": null,
"cds_end": null,
"cds_length": 3189,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000908788.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578847.1",
"strand": true,
"transcript": "ENST00000908788.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1062,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": null,
"cds_end": null,
"cds_length": 3189,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000908790.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578849.1",
"strand": true,
"transcript": "ENST00000908790.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1061,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": null,
"cds_end": null,
"cds_length": 3186,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000908786.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578845.1",
"strand": true,
"transcript": "ENST00000908786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1061,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": null,
"cds_end": null,
"cds_length": 3186,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000908787.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578846.1",
"strand": true,
"transcript": "ENST00000908787.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955926.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625985.1",
"strand": true,
"transcript": "ENST00000955926.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1048,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": null,
"cds_end": null,
"cds_length": 3147,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955930.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625989.1",
"strand": true,
"transcript": "ENST00000955930.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1038,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3965,
"cdna_start": null,
"cds_end": null,
"cds_length": 3117,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955929.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625988.1",
"strand": true,
"transcript": "ENST00000955929.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1036,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": null,
"cds_end": null,
"cds_length": 3111,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955925.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625984.1",
"strand": true,
"transcript": "ENST00000955925.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1036,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": null,
"cds_end": null,
"cds_length": 3111,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955928.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625987.1",
"strand": true,
"transcript": "ENST00000955928.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1035,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": null,
"cds_end": null,
"cds_length": 3108,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000908789.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578848.1",
"strand": true,
"transcript": "ENST00000908789.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1035,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": null,
"cds_end": null,
"cds_length": 3108,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955924.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625983.1",
"strand": true,
"transcript": "ENST00000955924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1028,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": null,
"cds_end": null,
"cds_length": 3087,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955931.1",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625990.1",
"strand": true,
"transcript": "ENST00000955931.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1035,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4107,
"cdna_start": null,
"cds_end": null,
"cds_length": 3108,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005245218.3",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245275.1",
"strand": true,
"transcript": "XM_005245218.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 704,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": null,
"cds_end": null,
"cds_length": 2115,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001374.3",
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856863.1",
"strand": true,
"transcript": "XM_017001374.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs13306004",
"effect": "5_prime_UTR_variant",
"frequency_reference_population": 0.005914501,
"gene_hgnc_id": 7943,
"gene_symbol": "NPR1",
"gnomad_exomes_ac": 5363,
"gnomad_exomes_af": 0.00440891,
"gnomad_exomes_homalt": 164,
"gnomad_genomes_ac": 2732,
"gnomad_genomes_af": 0.0179418,
"gnomad_genomes_homalt": 68,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 232,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.059,
"pos": 153679032,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000906.4"
}
]
}