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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: 19-4343769-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4343769&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4343769,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001300862.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "NM_001300862.2",
"protein_id": "NP_001287791.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 501,
"cds_start": 69,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000599840.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300862.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000599840.6",
"protein_id": "ENSP00000471735.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 501,
"cds_start": 69,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300862.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599840.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000262966.12",
"protein_id": "ENSP00000262966.7",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 471,
"cds_start": 69,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262966.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "n.69C>G",
"hgvs_p": null,
"transcript": "ENST00000594716.5",
"protein_id": "ENSP00000470987.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000594716.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000927551.1",
"protein_id": "ENSP00000597610.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 498,
"cds_start": 69,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927551.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000964909.1",
"protein_id": "ENSP00000634968.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 495,
"cds_start": 69,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964909.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "NM_032868.6",
"protein_id": "NP_116257.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 471,
"cds_start": 69,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032868.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.57C>G",
"hgvs_p": "p.Asp19Glu",
"transcript": "ENST00000597036.5",
"protein_id": "ENSP00000471189.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 468,
"cds_start": 57,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597036.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "NM_001159846.3",
"protein_id": "NP_001153318.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 451,
"cds_start": 69,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159846.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000359935.8",
"protein_id": "ENSP00000353015.3",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 451,
"cds_start": 69,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359935.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000964910.1",
"protein_id": "ENSP00000634969.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 442,
"cds_start": 69,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964910.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000964906.1",
"protein_id": "ENSP00000634965.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 422,
"cds_start": 69,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964906.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000964908.1",
"protein_id": "ENSP00000634967.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 421,
"cds_start": 69,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964908.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "ENST00000964907.1",
"protein_id": "ENSP00000634966.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 389,
"cds_start": 69,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964907.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu",
"transcript": "XM_006722926.3",
"protein_id": "XP_006722989.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 472,
"cds_start": 69,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722926.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"hgvs_c": "n.176C>G",
"hgvs_p": null,
"transcript": "ENST00000596722.6",
"protein_id": "ENSP00000471715.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596722.6"
}
],
"gene_symbol": "MPND",
"gene_hgnc_id": 25934,
"dbsnp": "rs372519061",
"frequency_reference_population": 0.00020107238,
"hom_count_reference_population": 1,
"allele_count_reference_population": 243,
"gnomad_exomes_af": 0.0000728088,
"gnomad_genomes_af": 0.00109966,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 166,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.056322067975997925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.1274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.135,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001300862.2",
"gene_symbol": "MPND",
"hgnc_id": 25934,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Asp23Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}