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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: 19-35738078-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35738078&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "KMT2B",
"hgnc_id": 15840,
"hgvs_c": "c.7759C>T",
"hgvs_p": "p.Arg2587*",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_014727.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2715,
"aa_ref": "R",
"aa_start": 2587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8485,
"cdna_start": 7775,
"cds_end": null,
"cds_length": 8148,
"cds_start": 7759,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_014727.3",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.7759C>T",
"hgvs_p": "p.Arg2587*",
"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": "*",
"aa_end": null,
"aa_length": 2715,
"aa_ref": "R",
"aa_start": 2587,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8485,
"cdna_start": 7775,
"cds_end": null,
"cds_length": 8148,
"cds_start": 7759,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000420124.4",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.7759C>T",
"hgvs_p": "p.Arg2587*",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000585476.5",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.2154C>T",
"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": "ENST00000585476.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2693,
"aa_ref": "R",
"aa_start": 2565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 7739,
"cds_end": null,
"cds_length": 8082,
"cds_start": 7693,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000673918.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.7693C>T",
"hgvs_p": "p.Arg2565*",
"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": "*",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1504,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000693677.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Arg502*",
"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": "*",
"aa_end": null,
"aa_length": 83,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 818,
"cdna_start": 209,
"cds_end": null,
"cds_length": 252,
"cds_start": 208,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000686920.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508975.1",
"strand": true,
"transcript": "ENST00000686920.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2693,
"aa_ref": "R",
"aa_start": 2565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 7709,
"cds_end": null,
"cds_length": 8082,
"cds_start": 7693,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011527561.3",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.7693C>T",
"hgvs_p": "p.Arg2565*",
"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": "*",
"aa_end": null,
"aa_length": 2623,
"aa_ref": "R",
"aa_start": 2495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8209,
"cdna_start": 7499,
"cds_end": null,
"cds_length": 7872,
"cds_start": 7483,
"consequences": [
"stop_gained"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047439787.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.7483C>T",
"hgvs_p": "p.Arg2495*",
"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": "G",
"aa_end": null,
"aa_length": 241,
"aa_ref": "G",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 647,
"cds_end": null,
"cds_length": 726,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674101.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Gly215Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501226.1",
"strand": true,
"transcript": "ENST00000674101.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 166,
"aa_ref": "G",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1132,
"cdna_start": 422,
"cds_end": null,
"cds_length": 501,
"cds_start": 420,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000693161.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Gly140Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509532.1",
"strand": true,
"transcript": "ENST00000693161.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2628,
"aa_ref": "G",
"aa_start": 2602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 7822,
"cds_end": null,
"cds_length": 7887,
"cds_start": 7806,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011527562.3",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "c.7806C>T",
"hgvs_p": "p.Gly2602Gly",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586308.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.377C>T",
"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": "ENST00000586308.1",
"transcript_support_level": 2
},
{
"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": 2929,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592092.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.2229C>T",
"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": "ENST00000592092.2",
"transcript_support_level": 2
},
{
"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": 33,
"exon_rank_end": null,
"feature": "ENST00000674114.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*4742C>T",
"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": "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": 14,
"exon_rank_end": null,
"feature": "ENST00000689544.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.3000C>T",
"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": 34,
"exon_rank_end": null,
"feature": "ENST00000691855.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*4734C>T",
"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": 35,
"exon_rank_end": null,
"feature": "ENST00000692961.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*444C>T",
"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": 1339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000693175.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*645C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510775.1",
"strand": true,
"transcript": "ENST00000693175.1",
"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": 33,
"exon_rank_end": null,
"feature": "ENST00000674114.2",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*4742C>T",
"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": 34,
"exon_rank_end": null,
"feature": "ENST00000691855.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*4734C>T",
"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": [
"3_prime_UTR_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000692961.1",
"gene_hgnc_id": 15840,
"gene_symbol": "KMT2B",
"hgvs_c": "n.*444C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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}