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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: 15-66436837-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66436837&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66436837,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000307102.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "NM_002755.4",
"protein_id": "NP_002746.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 393,
"cds_start": 383,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": "ENST00000307102.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "ENST00000307102.10",
"protein_id": "ENSP00000302486.5",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 393,
"cds_start": 383,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": "NM_002755.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "ENST00000685172.1",
"protein_id": "ENSP00000509604.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 417,
"cds_start": 383,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "ENST00000689951.1",
"protein_id": "ENSP00000509308.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 410,
"cds_start": 383,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Gly106Val",
"transcript": "ENST00000692683.1",
"protein_id": "ENSP00000508437.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 371,
"cds_start": 317,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "ENST00000691576.1",
"protein_id": "ENSP00000510066.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 350,
"cds_start": 383,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Gly106Val",
"transcript": "NM_001411065.1",
"protein_id": "NP_001397994.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 345,
"cds_start": 317,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Gly106Val",
"transcript": "ENST00000693150.1",
"protein_id": "ENSP00000510309.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 345,
"cds_start": 317,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "ENST00000691937.1",
"protein_id": "ENSP00000508768.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 317,
"cds_start": 383,
"cds_end": null,
"cds_length": 954,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "ENST00000686347.1",
"protein_id": "ENSP00000509027.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 284,
"cds_start": 383,
"cds_end": null,
"cds_length": 855,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Gly106Val",
"transcript": "XM_011521783.4",
"protein_id": "XP_011520085.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 371,
"cds_start": 317,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"transcript": "XM_017022411.3",
"protein_id": "XP_016877900.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 367,
"cds_start": 383,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 819,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.894G>T",
"hgvs_p": null,
"transcript": "ENST00000425818.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1338,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.317G>T",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.819G>T",
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.383G>T",
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.383G>T",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.291+1600G>T",
"hgvs_p": null,
"transcript": "ENST00000685763.1",
"protein_id": "ENSP00000509016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"dbsnp": "rs121908596",
"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": 0.9785116314888,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9979,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.855,
"phylop100way_prediction": "Pathogenic",
"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": 22,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 22,
"benign_score": 0,
"pathogenic_score": 22,
"criteria": [
"PS1",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000307102.10",
"gene_symbol": "MAP2K1",
"hgnc_id": 6840,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val"
}
],
"clinvar_disease": "Cardio-facio-cutaneous syndrome,Cardiofaciocutaneous syndrome 3,RASopathy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Cardiofaciocutaneous syndrome 3|Cardio-facio-cutaneous syndrome|not provided|RASopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}