← 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: 15-66485022-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66485022&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66485022,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000307102.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"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.726G>A",
"hgvs_p": "p.Val242Val",
"transcript": "NM_002755.4",
"protein_id": "NP_002746.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 393,
"cds_start": 726,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": "ENST00000307102.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.726G>A",
"hgvs_p": "p.Val242Val",
"transcript": "ENST00000307102.10",
"protein_id": "ENSP00000302486.5",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 393,
"cds_start": 726,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": "NM_002755.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.726G>A",
"hgvs_p": "p.Val242Val",
"transcript": "ENST00000685172.1",
"protein_id": "ENSP00000509604.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 417,
"cds_start": 726,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.777G>A",
"hgvs_p": "p.Val259Val",
"transcript": "ENST00000689951.1",
"protein_id": "ENSP00000509308.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 410,
"cds_start": 777,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.660G>A",
"hgvs_p": "p.Val220Val",
"transcript": "ENST00000692683.1",
"protein_id": "ENSP00000508437.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 371,
"cds_start": 660,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.597G>A",
"hgvs_p": "p.Val199Val",
"transcript": "ENST00000691576.1",
"protein_id": "ENSP00000510066.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 350,
"cds_start": 597,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.Val194Val",
"transcript": "NM_001411065.1",
"protein_id": "NP_001397994.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 345,
"cds_start": 582,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.Val194Val",
"transcript": "ENST00000693150.1",
"protein_id": "ENSP00000510309.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 345,
"cds_start": 582,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.579G>A",
"hgvs_p": "p.Val193Val",
"transcript": "ENST00000685763.1",
"protein_id": "ENSP00000509016.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 344,
"cds_start": 579,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.726G>A",
"hgvs_p": "p.Val242Val",
"transcript": "ENST00000691937.1",
"protein_id": "ENSP00000508768.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 317,
"cds_start": 726,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.198G>A",
"hgvs_p": "p.Val66Val",
"transcript": "ENST00000566326.1",
"protein_id": "ENSP00000456438.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 217,
"cds_start": 198,
"cds_end": null,
"cds_length": 654,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.660G>A",
"hgvs_p": "p.Val220Val",
"transcript": "XM_011521783.4",
"protein_id": "XP_011520085.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 371,
"cds_start": 660,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"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.648G>A",
"hgvs_p": "p.Val216Val",
"transcript": "XM_017022411.3",
"protein_id": "XP_016877900.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 367,
"cds_start": 648,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1084,
"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.1084G>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.141G>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.722G>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.722G>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.569-2206G>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.628-2206G>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": "rs373745627",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34700000286102295,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.347,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.463,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000307102.10",
"gene_symbol": "MAP2K1",
"hgnc_id": 6840,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Val242Val"
}
],
"clinvar_disease": "RASopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "RASopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}