← Back to variant description
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: 19-41869138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41869138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "RPS19",
"hgnc_id": 10402,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"inheritance_mode": "AD",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_001022.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1558,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Diamond-Blackfan anemia,Diamond-Blackfan anemia 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8663343191146851,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 315,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001022.4",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000598742.6",
"protein_coding": true,
"protein_id": "NP_001013.1",
"strand": true,
"transcript": "NM_001022.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 315,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000598742.6",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001022.4",
"protein_coding": true,
"protein_id": "ENSP00000470972.1",
"strand": true,
"transcript": "ENST00000598742.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 371,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321483.2",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308412.1",
"strand": true,
"transcript": "NM_001321483.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 471,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321484.2",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308413.1",
"strand": true,
"transcript": "NM_001321484.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 526,
"cdna_start": 329,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000593863.5",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470004.1",
"strand": true,
"transcript": "ENST00000593863.5",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 668,
"cdna_start": 471,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000600467.6",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469228.2",
"strand": true,
"transcript": "ENST00000600467.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": 493,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858696.1",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528755.1",
"strand": true,
"transcript": "ENST00000858696.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 632,
"cdna_start": 437,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858697.1",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528756.1",
"strand": true,
"transcript": "ENST00000858697.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": 348,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933915.1",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603974.1",
"strand": true,
"transcript": "ENST00000933915.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 145,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": 496,
"cds_end": null,
"cds_length": 438,
"cds_start": 280,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933916.1",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603975.1",
"strand": true,
"transcript": "ENST00000933916.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 71,
"aa_ref": "R",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": 303,
"cds_end": null,
"cds_length": 216,
"cds_start": 58,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000221975.6",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000221975.2",
"strand": true,
"transcript": "ENST00000221975.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 156,
"aa_ref": "P",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 328,
"cds_end": null,
"cds_length": 471,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321485.2",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308414.1",
"strand": true,
"transcript": "NM_001321485.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 99,
"aa_ref": "P",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 313,
"cdna_start": 305,
"cds_end": null,
"cds_length": 301,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000598261.2",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469798.1",
"strand": true,
"transcript": "ENST00000598261.2",
"transcript_support_level": 3
},
{
"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": 1172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000598399.1",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "n.*902C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472660.1",
"strand": true,
"transcript": "ENST00000598399.1",
"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": 1172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000598399.1",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "n.*902C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472660.1",
"strand": true,
"transcript": "ENST00000598399.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 342,
"cdna_start": null,
"cds_end": null,
"cds_length": 307,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601492.5",
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"hgvs_c": "c.*54C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471621.1",
"strand": true,
"transcript": "ENST00000601492.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs61762293",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 10402,
"gene_symbol": "RPS19",
"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": "Pathogenic",
"phenotype_combined": "Diamond-Blackfan anemia 1|not provided|Diamond-Blackfan anemia",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.66,
"pos": 41869138,
"ref": "C",
"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_001022.4"
}
]
}