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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: 21-29092560-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29092560&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29092560,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020152.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "ENST00000341618.8",
"protein_id": "ENSP00000343212.4",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 242,
"cds_start": 349,
"cds_end": null,
"cds_length": 729,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "ENST00000399947.6",
"protein_id": "ENSP00000382828.2",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 242,
"cds_start": 349,
"cds_end": null,
"cds_length": 729,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 2003,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.797G>A",
"hgvs_p": null,
"transcript": "ENST00000496779.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_001286634.2",
"protein_id": "NP_001273563.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 242,
"cds_start": 349,
"cds_end": null,
"cds_length": 729,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_001371369.1",
"protein_id": "NP_001358298.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 242,
"cds_start": 349,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_020152.4",
"protein_id": "NP_064537.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 242,
"cds_start": 349,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_001286623.2",
"protein_id": "NP_001273552.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 124,
"cds_start": 349,
"cds_end": null,
"cds_length": 375,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"transcript": "XM_047440930.1",
"protein_id": "XP_047296886.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 155,
"cds_start": 88,
"cds_end": null,
"cds_length": 468,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 3902,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.615G>A",
"hgvs_p": null,
"transcript": "ENST00000492930.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 769,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.349G>A",
"hgvs_p": null,
"transcript": "ENST00000710354.1",
"protein_id": "ENSP00000518225.1",
"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": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-190G>A",
"hgvs_p": null,
"transcript": "NM_001286617.2",
"protein_id": "NP_001273546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-61G>A",
"hgvs_p": null,
"transcript": "NM_001286618.2",
"protein_id": "NP_001273547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-334G>A",
"hgvs_p": null,
"transcript": "NM_001286619.2",
"protein_id": "NP_001273548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-334G>A",
"hgvs_p": null,
"transcript": "NM_001371374.1",
"protein_id": "NP_001358303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-334G>A",
"hgvs_p": null,
"transcript": "ENST00000339024.8",
"protein_id": "ENSP00000345777.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-61G>A",
"hgvs_p": null,
"transcript": "ENST00000399934.5",
"protein_id": "ENSP00000382816.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-190G>A",
"hgvs_p": null,
"transcript": "ENST00000399935.6",
"protein_id": "ENSP00000382817.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.-114G>A",
"hgvs_p": null,
"transcript": "NM_001286622.2",
"protein_id": "NP_001273551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"dbsnp": "rs764189661",
"frequency_reference_population": 0.00004398627,
"hom_count_reference_population": 1,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000458328,
"gnomad_genomes_af": 0.0000262633,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27126166224479675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.491,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_020152.4",
"gene_symbol": "MAP3K7CL",
"hgnc_id": 16457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}