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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: 19-35730379-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35730379&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KMT2B",
"hgnc_id": 15840,
"hgvs_c": "c.5114G>A",
"hgvs_p": "p.Arg1705Gln",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_014727.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9578,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " childhood-onset,Dystonia 28",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9297031164169312,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2715,
"aa_ref": "R",
"aa_start": 1705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8485,
"cdna_start": 5130,
"cds_end": null,
"cds_length": 8148,
"cds_start": 5114,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_014727.3",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.5114G>A",
"hgvs_p": "p.Arg1705Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000420124.4",
"protein_coding": true,
"protein_id": "NP_055542.1",
"strand": true,
"transcript": "NM_014727.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2715,
"aa_ref": "R",
"aa_start": 1705,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8485,
"cdna_start": 5130,
"cds_end": null,
"cds_length": 8148,
"cds_start": 5114,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000420124.4",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.5114G>A",
"hgvs_p": "p.Arg1705Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014727.3",
"protein_coding": true,
"protein_id": "ENSP00000398837.2",
"strand": true,
"transcript": "ENST00000420124.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2693,
"aa_ref": "R",
"aa_start": 1683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 5094,
"cds_end": null,
"cds_length": 8082,
"cds_start": 5048,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000673918.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.5048G>A",
"hgvs_p": "p.Arg1683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501283.1",
"strand": true,
"transcript": "ENST00000673918.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 762,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 335,
"cds_end": null,
"cds_length": 2290,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000691421.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508674.1",
"strand": true,
"transcript": "ENST00000691421.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 38,
"cds_end": null,
"cds_length": 1893,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000693677.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509779.1",
"strand": true,
"transcript": "ENST00000693677.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1091,
"cdna_start": 540,
"cds_end": null,
"cds_length": 1090,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000685168.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510651.1",
"strand": true,
"transcript": "ENST00000685168.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2693,
"aa_ref": "R",
"aa_start": 1683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 5064,
"cds_end": null,
"cds_length": 8082,
"cds_start": 5048,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011527561.3",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.5048G>A",
"hgvs_p": "p.Arg1683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525863.3",
"strand": true,
"transcript": "XM_011527561.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2628,
"aa_ref": "R",
"aa_start": 1705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 5130,
"cds_end": null,
"cds_length": 7887,
"cds_start": 5114,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011527562.3",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.5114G>A",
"hgvs_p": "p.Arg1705Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525864.1",
"strand": true,
"transcript": "XM_011527562.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2623,
"aa_ref": "R",
"aa_start": 1613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8209,
"cdna_start": 4854,
"cds_end": null,
"cds_length": 7872,
"cds_start": 4838,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047439787.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.4838G>A",
"hgvs_p": "p.Arg1613Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295743.1",
"strand": true,
"transcript": "XM_047439787.1",
"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": 6002,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000674114.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*2097G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501039.2",
"strand": true,
"transcript": "ENST00000674114.2",
"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": 2354,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684977.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.332G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509384.1",
"strand": true,
"transcript": "ENST00000684977.1",
"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": 3710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000689544.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.267G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000689544.1",
"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": 8011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000691855.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*2089G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510398.1",
"strand": true,
"transcript": "ENST00000691855.1",
"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": 8409,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000692961.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.5114G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509289.1",
"strand": true,
"transcript": "ENST00000692961.1",
"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": 6002,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000674114.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*2097G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501039.2",
"strand": true,
"transcript": "ENST00000674114.2",
"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": 8011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000691855.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*2089G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510398.1",
"strand": true,
"transcript": "ENST00000691855.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555731980",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Dystonia 28, childhood-onset",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 35730379,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.72,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_014727.3"
}
]
}