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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: 15-89790954-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89790954&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ANPEP",
"hgnc_id": 500,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001150.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 18,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1298,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15421193838119507,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3662,
"cdna_start": 2972,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001150.3",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300060.7",
"protein_coding": true,
"protein_id": "NP_001141.2",
"strand": false,
"transcript": "NM_001150.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3662,
"cdna_start": 2972,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000300060.7",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001150.3",
"protein_coding": true,
"protein_id": "ENSP00000300060.6",
"strand": false,
"transcript": "ENST00000300060.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 2975,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001381923.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368852.1",
"strand": false,
"transcript": "NM_001381923.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001381924.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368853.1",
"strand": false,
"transcript": "NM_001381924.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000559874.2",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452934.2",
"strand": false,
"transcript": "ENST00000559874.2",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 3123,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000560137.2",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453413.2",
"strand": false,
"transcript": "ENST00000560137.2",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 3153,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000679248.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502886.1",
"strand": false,
"transcript": "ENST00000679248.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000889294.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559353.1",
"strand": false,
"transcript": "ENST00000889294.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 3043,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000889295.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559354.1",
"strand": false,
"transcript": "ENST00000889295.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 3055,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000889296.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559355.1",
"strand": false,
"transcript": "ENST00000889296.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000889297.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559356.1",
"strand": false,
"transcript": "ENST00000889297.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 967,
"aa_ref": "D",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970307.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Asp890Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640366.1",
"strand": false,
"transcript": "ENST00000970307.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 959,
"aa_ref": "D",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 2648,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2644,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000889301.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Asp882Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559360.1",
"strand": false,
"transcript": "ENST00000889301.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 958,
"aa_ref": "D",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2641,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000889299.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2641G>A",
"hgvs_p": "p.Asp881Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559358.1",
"strand": false,
"transcript": "ENST00000889299.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 958,
"aa_ref": "D",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3371,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2641,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000889300.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2641G>A",
"hgvs_p": "p.Asp881Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559359.1",
"strand": false,
"transcript": "ENST00000889300.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 873,
"aa_ref": "D",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2386,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000889298.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Asp796Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559357.1",
"strand": false,
"transcript": "ENST00000889298.1",
"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": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000558740.1",
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"hgvs_c": "n.572G>A",
"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": "ENST00000558740.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.000313704581721857,
"dbsnp": "rs766635145",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.000011154351,
"gene_hgnc_id": 500,
"gene_symbol": "ANPEP",
"gnomad_exomes_ac": 15,
"gnomad_exomes_af": 0.0000102633,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197101,
"gnomad_genomes_homalt": 0,
"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": 0.416,
"pos": 89790954,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.058,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07999999821186066,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001150.3"
}
]
}