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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: 15-41799924-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41799924&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41799924,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001128608.2",
"consequences": [
{
"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": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "NM_014994.3",
"protein_id": "NP_055809.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": null,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000457542.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014994.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000457542.7",
"protein_id": "ENSP00000397570.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": null,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014994.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457542.7"
},
{
"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": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000456763.6",
"protein_id": "ENSP00000393099.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1514,
"cds_start": null,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456763.6"
},
{
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000514566.5",
"protein_id": "ENSP00000426154.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": null,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514566.5"
},
{
"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": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "NM_001128608.2",
"protein_id": "NP_001122080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1514,
"cds_start": null,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128608.2"
},
{
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000905150.1",
"protein_id": "ENSP00000575209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": null,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905150.1"
},
{
"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": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000905151.1",
"protein_id": "ENSP00000575210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": null,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905151.1"
},
{
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000938892.1",
"protein_id": "ENSP00000608951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": null,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938892.1"
},
{
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000938893.1",
"protein_id": "ENSP00000608952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1405,
"cds_start": null,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938893.1"
},
{
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000938894.1",
"protein_id": "ENSP00000608953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1391,
"cds_start": null,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938894.1"
},
{
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "NM_001265611.2",
"protein_id": "NP_001252540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": null,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265611.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "c.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000510535.1",
"protein_id": "ENSP00000422132.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.378+10C>T",
"hgvs_p": null,
"transcript": "ENST00000502292.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000502292.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.171+10C>T",
"hgvs_p": null,
"transcript": "ENST00000505061.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000505061.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.115-10959C>T",
"hgvs_p": null,
"transcript": "ENST00000505373.5",
"protein_id": "ENSP00000421891.1",
"transcript_support_level": 2,
"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": "ENST00000505373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.147+10C>T",
"hgvs_p": null,
"transcript": "ENST00000507762.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000507762.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.206+10C>T",
"hgvs_p": null,
"transcript": "ENST00000512970.5",
"protein_id": "ENSP00000427582.1",
"transcript_support_level": 2,
"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": "ENST00000512970.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.442+10C>T",
"hgvs_p": null,
"transcript": "NR_049761.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_049761.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"hgvs_c": "n.351-10959C>T",
"hgvs_p": null,
"transcript": "NR_049762.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_049762.2"
}
],
"gene_symbol": "MAPKBP1",
"gene_hgnc_id": 29536,
"dbsnp": "rs375301244",
"frequency_reference_population": 0.00008183509,
"hom_count_reference_population": 0,
"allele_count_reference_population": 132,
"gnomad_exomes_af": 0.0000759827,
"gnomad_genomes_af": 0.000138029,
"gnomad_exomes_ac": 111,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.123,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001128608.2",
"gene_symbol": "MAPKBP1",
"hgnc_id": 29536,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.206+10C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}