← Back to variant description
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: 15-66485025-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66485025&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66485025,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000307102.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"transcript": "NM_002755.4",
"protein_id": "NP_002746.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 393,
"cds_start": 729,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": "ENST00000307102.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"transcript": "ENST00000307102.10",
"protein_id": "ENSP00000302486.5",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 393,
"cds_start": 729,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": "NM_002755.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"transcript": "ENST00000685172.1",
"protein_id": "ENSP00000509604.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 417,
"cds_start": 729,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "ENST00000689951.1",
"protein_id": "ENSP00000509308.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 410,
"cds_start": 780,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.663G>A",
"hgvs_p": "p.Gln221Gln",
"transcript": "ENST00000692683.1",
"protein_id": "ENSP00000508437.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 371,
"cds_start": 663,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.600G>A",
"hgvs_p": "p.Gln200Gln",
"transcript": "ENST00000691576.1",
"protein_id": "ENSP00000510066.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 350,
"cds_start": 600,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.585G>A",
"hgvs_p": "p.Gln195Gln",
"transcript": "NM_001411065.1",
"protein_id": "NP_001397994.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 345,
"cds_start": 585,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.585G>A",
"hgvs_p": "p.Gln195Gln",
"transcript": "ENST00000693150.1",
"protein_id": "ENSP00000510309.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 345,
"cds_start": 585,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.582G>A",
"hgvs_p": "p.Gln194Gln",
"transcript": "ENST00000685763.1",
"protein_id": "ENSP00000509016.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 344,
"cds_start": 582,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln",
"transcript": "ENST00000691937.1",
"protein_id": "ENSP00000508768.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 317,
"cds_start": 729,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "ENST00000566326.1",
"protein_id": "ENSP00000456438.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 217,
"cds_start": 201,
"cds_end": null,
"cds_length": 654,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.663G>A",
"hgvs_p": "p.Gln221Gln",
"transcript": "XM_011521783.4",
"protein_id": "XP_011520085.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 371,
"cds_start": 663,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.651G>A",
"hgvs_p": "p.Gln217Gln",
"transcript": "XM_017022411.3",
"protein_id": "XP_016877900.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 367,
"cds_start": 651,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.1087G>A",
"hgvs_p": null,
"transcript": "ENST00000687191.1",
"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": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.144G>A",
"hgvs_p": null,
"transcript": "ENST00000687481.1",
"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": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.725G>A",
"hgvs_p": null,
"transcript": "ENST00000691077.1",
"protein_id": "ENSP00000509843.1",
"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": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.725G>A",
"hgvs_p": null,
"transcript": "ENST00000692487.1",
"protein_id": "ENSP00000509534.1",
"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": 4868,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.569-2203G>A",
"hgvs_p": null,
"transcript": "ENST00000686347.1",
"protein_id": "ENSP00000509027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": -4,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.628-2203G>A",
"hgvs_p": null,
"transcript": "ENST00000684779.1",
"protein_id": "ENSP00000508681.1",
"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": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"dbsnp": "rs772752167",
"frequency_reference_population": 0.000030366542,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000280554,
"gnomad_genomes_af": 0.0000525541,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07100000232458115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.221,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000307102.10",
"gene_symbol": "MAP2K1",
"hgnc_id": 6840,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gln243Gln"
}
],
"clinvar_disease": "Cardiovascular phenotype,MAP2K1-related disorder,RASopathy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "RASopathy|not provided|Cardiovascular phenotype|MAP2K1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}