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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: 19-35737262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35737262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35737262,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000420124.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.7549C>T",
"hgvs_p": "p.Arg2517Trp",
"transcript": "NM_014727.3",
"protein_id": "NP_055542.1",
"transcript_support_level": null,
"aa_start": 2517,
"aa_end": null,
"aa_length": 2715,
"cds_start": 7549,
"cds_end": null,
"cds_length": 8148,
"cdna_start": 7565,
"cdna_end": null,
"cdna_length": 8485,
"mane_select": "ENST00000420124.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.7549C>T",
"hgvs_p": "p.Arg2517Trp",
"transcript": "ENST00000420124.4",
"protein_id": "ENSP00000398837.2",
"transcript_support_level": 1,
"aa_start": 2517,
"aa_end": null,
"aa_length": 2715,
"cds_start": 7549,
"cds_end": null,
"cds_length": 8148,
"cdna_start": 7565,
"cdna_end": null,
"cdna_length": 8485,
"mane_select": "NM_014727.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.1944C>T",
"hgvs_p": null,
"transcript": "ENST00000585476.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.7483C>T",
"hgvs_p": "p.Arg2495Trp",
"transcript": "ENST00000673918.2",
"protein_id": "ENSP00000501283.1",
"transcript_support_level": null,
"aa_start": 2495,
"aa_end": null,
"aa_length": 2693,
"cds_start": 7483,
"cds_end": null,
"cds_length": 8082,
"cdna_start": 7529,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Trp",
"transcript": "ENST00000693677.1",
"protein_id": "ENSP00000509779.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 630,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Cys",
"transcript": "ENST00000674101.1",
"protein_id": "ENSP00000501226.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 241,
"cds_start": 388,
"cds_end": null,
"cds_length": 726,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.7483C>T",
"hgvs_p": "p.Arg2495Trp",
"transcript": "XM_011527561.3",
"protein_id": "XP_011525863.3",
"transcript_support_level": null,
"aa_start": 2495,
"aa_end": null,
"aa_length": 2693,
"cds_start": 7483,
"cds_end": null,
"cds_length": 8082,
"cdna_start": 7499,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.7549C>T",
"hgvs_p": "p.Arg2517Cys",
"transcript": "XM_011527562.3",
"protein_id": "XP_011525864.1",
"transcript_support_level": null,
"aa_start": 2517,
"aa_end": null,
"aa_length": 2628,
"cds_start": 7549,
"cds_end": null,
"cds_length": 7887,
"cdna_start": 7565,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.7273C>T",
"hgvs_p": "p.Arg2425Trp",
"transcript": "XM_047439787.1",
"protein_id": "XP_047295743.1",
"transcript_support_level": null,
"aa_start": 2425,
"aa_end": null,
"aa_length": 2623,
"cds_start": 7273,
"cds_end": null,
"cds_length": 7872,
"cdna_start": 7289,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "?",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.???154???",
"transcript": "ENST00000689929.1",
"protein_id": "ENSP00000509970.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 152,
"cds_start": 460,
"cds_end": null,
"cds_length": 461,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.2019C>T",
"hgvs_p": null,
"transcript": "ENST00000592092.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*4532C>T",
"hgvs_p": null,
"transcript": "ENST00000674114.2",
"protein_id": "ENSP00000501039.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.2790C>T",
"hgvs_p": null,
"transcript": "ENST00000689544.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*4524C>T",
"hgvs_p": null,
"transcript": "ENST00000691855.1",
"protein_id": "ENSP00000510398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*234C>T",
"hgvs_p": null,
"transcript": "ENST00000692961.1",
"protein_id": "ENSP00000509289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*435C>T",
"hgvs_p": null,
"transcript": "ENST00000693175.1",
"protein_id": "ENSP00000510775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*4532C>T",
"hgvs_p": null,
"transcript": "ENST00000674114.2",
"protein_id": "ENSP00000501039.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*4524C>T",
"hgvs_p": null,
"transcript": "ENST00000691855.1",
"protein_id": "ENSP00000510398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*234C>T",
"hgvs_p": null,
"transcript": "ENST00000692961.1",
"protein_id": "ENSP00000509289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.*435C>T",
"hgvs_p": null,
"transcript": "ENST00000693175.1",
"protein_id": "ENSP00000510775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "c.211+276C>T",
"hgvs_p": null,
"transcript": "ENST00000693161.1",
"protein_id": "ENSP00000509532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"hgvs_c": "n.-206C>T",
"hgvs_p": null,
"transcript": "ENST00000586308.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KMT2B",
"gene_hgnc_id": 15840,
"dbsnp": "rs1057519285",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000146648,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8917738199234009,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.8,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9647,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.346,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0011512874446882,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000420124.4",
"gene_symbol": "KMT2B",
"hgnc_id": 15840,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.7549C>T",
"hgvs_p": "p.Arg2517Trp"
}
],
"clinvar_disease": " childhood-onset,Dystonia 28",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dystonia 28, childhood-onset",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}