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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: 4-102634907-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102634907&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102634907,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000647097.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"transcript": "NM_005908.4",
"protein_id": "NP_005899.3",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 879,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": "ENST00000647097.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"transcript": "ENST00000647097.2",
"protein_id": "ENSP00000495247.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 879,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": "NM_005908.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2434C>T",
"hgvs_p": "p.Arg812Trp",
"transcript": "ENST00000642252.1",
"protein_id": "ENSP00000495483.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 925,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp",
"transcript": "ENST00000644159.1",
"protein_id": "ENSP00000494462.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 886,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"transcript": "ENST00000505239.1",
"protein_id": "ENSP00000427322.1",
"transcript_support_level": 2,
"aa_start": 709,
"aa_end": null,
"aa_length": 822,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "XM_047415692.1",
"protein_id": "XP_047271648.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 854,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 5839,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "XM_047415693.1",
"protein_id": "XP_047271649.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 854,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 5717,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "XM_047415694.1",
"protein_id": "XP_047271650.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 663,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.6531C>T",
"hgvs_p": null,
"transcript": "ENST00000514430.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 7444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*936C>T",
"hgvs_p": null,
"transcript": "ENST00000644545.1",
"protein_id": "ENSP00000493992.1",
"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": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1318C>T",
"hgvs_p": null,
"transcript": "ENST00000645348.1",
"protein_id": "ENSP00000495363.1",
"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": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1273C>T",
"hgvs_p": null,
"transcript": "ENST00000645558.1",
"protein_id": "ENSP00000496399.1",
"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": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1416C>T",
"hgvs_p": null,
"transcript": "ENST00000646311.1",
"protein_id": "ENSP00000493465.1",
"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": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1150C>T",
"hgvs_p": null,
"transcript": "ENST00000646727.1",
"protein_id": "ENSP00000493519.1",
"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": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1737C>T",
"hgvs_p": null,
"transcript": "ENST00000647129.1",
"protein_id": "ENSP00000496137.1",
"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": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*936C>T",
"hgvs_p": null,
"transcript": "ENST00000644545.1",
"protein_id": "ENSP00000493992.1",
"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": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1318C>T",
"hgvs_p": null,
"transcript": "ENST00000645348.1",
"protein_id": "ENSP00000495363.1",
"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": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1273C>T",
"hgvs_p": null,
"transcript": "ENST00000645558.1",
"protein_id": "ENSP00000496399.1",
"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": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1416C>T",
"hgvs_p": null,
"transcript": "ENST00000646311.1",
"protein_id": "ENSP00000493465.1",
"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": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1150C>T",
"hgvs_p": null,
"transcript": "ENST00000646727.1",
"protein_id": "ENSP00000493519.1",
"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": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.*1737C>T",
"hgvs_p": null,
"transcript": "ENST00000647129.1",
"protein_id": "ENSP00000496137.1",
"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": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"dbsnp": "rs147428514",
"frequency_reference_population": 0.00012885671,
"hom_count_reference_population": 0,
"allele_count_reference_population": 208,
"gnomad_exomes_af": 0.000114236,
"gnomad_genomes_af": 0.000269184,
"gnomad_exomes_ac": 167,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7362775802612305,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2349,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.925,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": "BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647097.2",
"gene_symbol": "MANBA",
"hgnc_id": 6831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Trp"
}
],
"clinvar_disease": "Beta-D-mannosidosis,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Beta-D-mannosidosis|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}