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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: 17-42570011-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42570011&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42570011,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_170607.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Gln169Arg",
"transcript": "NM_198204.2",
"protein_id": "NP_937847.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 244,
"cds_start": 506,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435881.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198204.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Gln169Arg",
"transcript": "ENST00000435881.7",
"protein_id": "ENSP00000416627.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 244,
"cds_start": 506,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198204.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435881.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.668A>G",
"hgvs_p": "p.Gln223Arg",
"transcript": "ENST00000246912.8",
"protein_id": "ENSP00000246912.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 298,
"cds_start": 668,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246912.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Gln139Arg",
"transcript": "ENST00000346833.8",
"protein_id": "ENSP00000320913.3",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 214,
"cds_start": 416,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346833.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "n.713A>G",
"hgvs_p": null,
"transcript": "ENST00000585403.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585403.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Gln254Arg",
"transcript": "ENST00000913730.1",
"protein_id": "ENSP00000583789.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 329,
"cds_start": 761,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913730.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.668A>G",
"hgvs_p": "p.Gln223Arg",
"transcript": "NM_170607.3",
"protein_id": "NP_733752.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 298,
"cds_start": 668,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170607.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Gln200Arg",
"transcript": "ENST00000948562.1",
"protein_id": "ENSP00000618621.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 275,
"cds_start": 599,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948562.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Gln180Arg",
"transcript": "ENST00000913731.1",
"protein_id": "ENSP00000583790.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 255,
"cds_start": 539,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913731.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Gln193Arg",
"transcript": "ENST00000591024.1",
"protein_id": "ENSP00000464697.1",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 247,
"cds_start": 578,
"cds_end": null,
"cds_length": 745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591024.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Gln165Arg",
"transcript": "ENST00000913727.1",
"protein_id": "ENSP00000583786.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 240,
"cds_start": 494,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913727.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Gln153Arg",
"transcript": "ENST00000873680.1",
"protein_id": "ENSP00000543739.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 228,
"cds_start": 458,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873680.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Gln139Arg",
"transcript": "NM_198205.2",
"protein_id": "NP_937848.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 214,
"cds_start": 416,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198205.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Gln126Arg",
"transcript": "ENST00000913729.1",
"protein_id": "ENSP00000583788.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 201,
"cds_start": 377,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913729.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Gln100Arg",
"transcript": "ENST00000913728.1",
"protein_id": "ENSP00000583787.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 175,
"cds_start": 299,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913728.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "c.209A>G",
"hgvs_p": "p.Gln70Arg",
"transcript": "ENST00000913726.1",
"protein_id": "ENSP00000583785.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 145,
"cds_start": 209,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "n.672A>G",
"hgvs_p": null,
"transcript": "ENST00000590050.5",
"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": "ENST00000590050.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"hgvs_c": "n.1068-86A>G",
"hgvs_p": null,
"transcript": "ENST00000588320.1",
"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": "ENST00000588320.1"
}
],
"gene_symbol": "MLX",
"gene_hgnc_id": 11645,
"dbsnp": "rs665268",
"frequency_reference_population": 0.28480956,
"hom_count_reference_population": 68468,
"allele_count_reference_population": 459571,
"gnomad_exomes_af": 0.288128,
"gnomad_genomes_af": 0.25291,
"gnomad_exomes_ac": 421119,
"gnomad_genomes_ac": 38452,
"gnomad_exomes_homalt": 63274,
"gnomad_genomes_homalt": 5194,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004393577575683594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.515,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_170607.3",
"gene_symbol": "MLX",
"hgnc_id": 11645,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.668A>G",
"hgvs_p": "p.Gln223Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}