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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: 11-32600763-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32600763&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF3M",
"hgnc_id": 24460,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_006360.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1997,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.430886447429657,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 374,
"aa_ref": "I",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5047,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1125,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006360.6",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000531120.6",
"protein_coding": true,
"protein_id": "NP_006351.2",
"strand": true,
"transcript": "NM_006360.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 374,
"aa_ref": "I",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5047,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1125,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000531120.6",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006360.6",
"protein_coding": true,
"protein_id": "ENSP00000436049.1",
"strand": true,
"transcript": "ENST00000531120.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 373,
"aa_ref": "I",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1122,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924135.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Ile291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594194.1",
"strand": true,
"transcript": "ENST00000924135.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1119,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924136.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594195.1",
"strand": true,
"transcript": "ENST00000924136.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1119,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924137.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.868A>G",
"hgvs_p": "p.Ile290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594196.1",
"strand": true,
"transcript": "ENST00000924137.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 356,
"aa_ref": "I",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1071,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873390.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Ile274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543449.1",
"strand": true,
"transcript": "ENST00000873390.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 348,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1047,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924141.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594200.1",
"strand": true,
"transcript": "ENST00000924141.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 346,
"aa_ref": "I",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1154,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1041,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873391.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Ile264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543450.1",
"strand": true,
"transcript": "ENST00000873391.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 346,
"aa_ref": "I",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1041,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924138.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.790A>G",
"hgvs_p": "p.Ile264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594197.1",
"strand": true,
"transcript": "ENST00000924138.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "I",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 802,
"cds_end": null,
"cds_length": 996,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924139.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.745A>G",
"hgvs_p": "p.Ile249Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594198.1",
"strand": true,
"transcript": "ENST00000924139.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "I",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 706,
"cds_end": null,
"cds_length": 906,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924140.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594199.1",
"strand": true,
"transcript": "ENST00000924140.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 242,
"aa_ref": "I",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4651,
"cdna_start": 535,
"cds_end": null,
"cds_length": 729,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001307929.2",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.478A>G",
"hgvs_p": "p.Ile160Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294858.1",
"strand": true,
"transcript": "NM_001307929.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 242,
"aa_ref": "I",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 532,
"cds_end": null,
"cds_length": 729,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000524896.5",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.478A>G",
"hgvs_p": "p.Ile160Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436787.1",
"strand": true,
"transcript": "ENST00000524896.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 219,
"aa_ref": "I",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 397,
"cds_end": null,
"cds_length": 662,
"cds_start": 397,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526267.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ile133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432139.1",
"strand": true,
"transcript": "ENST00000526267.1",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 149,
"aa_ref": "I",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 259,
"cds_end": null,
"cds_length": 450,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000873389.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Ile67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543448.1",
"strand": true,
"transcript": "ENST00000873389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 326,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": null,
"cds_end": null,
"cds_length": 981,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873388.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "c.800-999A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543447.1",
"strand": true,
"transcript": "ENST00000873388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000524711.5",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "n.*1395A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432286.1",
"strand": true,
"transcript": "ENST00000524711.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000525054.1",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "n.438A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525054.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000525782.5",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "n.*1217A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434080.1",
"strand": true,
"transcript": "ENST00000525782.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000524711.5",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "n.*1395A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432286.1",
"strand": true,
"transcript": "ENST00000524711.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000525782.5",
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"hgvs_c": "n.*1217A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434080.1",
"strand": true,
"transcript": "ENST00000525782.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": 6.849587e-7,
"gene_hgnc_id": 24460,
"gene_symbol": "EIF3M",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84959e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.091,
"pos": 32600763,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.113,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006360.6"
}
]
}