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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: 7-152199398-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152199398&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 152199398,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_170606.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.4154A>G",
"hgvs_p": "p.Asn1385Ser",
"transcript": "NM_170606.3",
"protein_id": "NP_733751.2",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 4911,
"cds_start": 4154,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 4371,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "ENST00000262189.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170606.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.4154A>G",
"hgvs_p": "p.Asn1385Ser",
"transcript": "ENST00000262189.11",
"protein_id": "ENSP00000262189.6",
"transcript_support_level": 1,
"aa_start": 1385,
"aa_end": null,
"aa_length": 4911,
"cds_start": 4154,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 4371,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "NM_170606.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262189.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.1865A>G",
"hgvs_p": null,
"transcript": "ENST00000473186.5",
"protein_id": null,
"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": 12854,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473186.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.4154A>G",
"hgvs_p": "p.Asn1385Ser",
"transcript": "ENST00000682283.1",
"protein_id": "ENSP00000507485.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 4968,
"cds_start": 4154,
"cds_end": null,
"cds_length": 14907,
"cdna_start": 4154,
"cdna_end": null,
"cdna_length": 15426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682283.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.4034A>G",
"hgvs_p": "p.Asn1345Ser",
"transcript": "ENST00000679882.1",
"protein_id": "ENSP00000506154.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 4762,
"cds_start": 4034,
"cds_end": null,
"cds_length": 14289,
"cdna_start": 4184,
"cdna_end": null,
"cdna_length": 14469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679882.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Asn501Ser",
"transcript": "ENST00000683200.1",
"protein_id": "ENSP00000508052.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 4054,
"cds_start": 1502,
"cds_end": null,
"cds_length": 12165,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 15972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683200.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1502A>G",
"hgvs_p": "p.Asn501Ser",
"transcript": "ENST00000680969.1",
"protein_id": "ENSP00000505951.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 2951,
"cds_start": 1502,
"cds_end": null,
"cds_length": 8856,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680969.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.2852A>G",
"hgvs_p": "p.Asn951Ser",
"transcript": "ENST00000681033.1",
"protein_id": "ENSP00000505058.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 2716,
"cds_start": 2852,
"cds_end": null,
"cds_length": 8151,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 8151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681033.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.Asn277Ser",
"transcript": "ENST00000682176.1",
"protein_id": "ENSP00000507665.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 2056,
"cds_start": 830,
"cds_end": null,
"cds_length": 6171,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.*247A>G",
"hgvs_p": null,
"transcript": "ENST00000679645.1",
"protein_id": "ENSP00000505745.1",
"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": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.4018A>G",
"hgvs_p": null,
"transcript": "ENST00000683254.1",
"protein_id": null,
"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": 9575,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.*247A>G",
"hgvs_p": null,
"transcript": "ENST00000679645.1",
"protein_id": "ENSP00000505745.1",
"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": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679645.1"
}
],
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"dbsnp": "rs61730535",
"frequency_reference_population": 0.000095940886,
"hom_count_reference_population": 0,
"allele_count_reference_population": 153,
"gnomad_exomes_af": 0.000092207,
"gnomad_genomes_af": 0.000131297,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011018037796020508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.0646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.913,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_170606.3",
"gene_symbol": "KMT2C",
"hgnc_id": 13726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4154A>G",
"hgvs_p": "p.Asn1385Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,KMT2C-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 O:1",
"phenotype_combined": "not specified|Inborn genetic diseases|not provided|KMT2C-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}