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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: 16-20933198-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20933198&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20933198,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017539.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12169T>C",
"hgvs_p": "p.Trp4057Arg",
"transcript": "NM_001347886.2",
"protein_id": "NP_001334815.1",
"transcript_support_level": null,
"aa_start": 4057,
"aa_end": null,
"aa_length": 4070,
"cds_start": 12169,
"cds_end": null,
"cds_length": 12213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000698260.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347886.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12169T>C",
"hgvs_p": "p.Trp4057Arg",
"transcript": "ENST00000698260.1",
"protein_id": "ENSP00000513632.1",
"transcript_support_level": null,
"aa_start": 4057,
"aa_end": null,
"aa_length": 4070,
"cds_start": 12169,
"cds_end": null,
"cds_length": 12213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001347886.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698260.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12307T>C",
"hgvs_p": "p.Trp4103Arg",
"transcript": "ENST00000261383.3",
"protein_id": "ENSP00000261383.3",
"transcript_support_level": 1,
"aa_start": 4103,
"aa_end": null,
"aa_length": 4116,
"cds_start": 12307,
"cds_end": null,
"cds_length": 12351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261383.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12349T>C",
"hgvs_p": "p.Trp4117Arg",
"transcript": "ENST00000685858.1",
"protein_id": "ENSP00000508756.1",
"transcript_support_level": null,
"aa_start": 4117,
"aa_end": null,
"aa_length": 4130,
"cds_start": 12349,
"cds_end": null,
"cds_length": 12393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685858.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12307T>C",
"hgvs_p": "p.Trp4103Arg",
"transcript": "NM_017539.2",
"protein_id": "NP_060009.1",
"transcript_support_level": null,
"aa_start": 4103,
"aa_end": null,
"aa_length": 4116,
"cds_start": 12307,
"cds_end": null,
"cds_length": 12351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017539.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12349T>C",
"hgvs_p": "p.Trp4117Arg",
"transcript": "XM_017023432.2",
"protein_id": "XP_016878921.1",
"transcript_support_level": null,
"aa_start": 4117,
"aa_end": null,
"aa_length": 4130,
"cds_start": 12349,
"cds_end": null,
"cds_length": 12393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023432.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12190T>C",
"hgvs_p": "p.Trp4064Arg",
"transcript": "XM_011545882.3",
"protein_id": "XP_011544184.1",
"transcript_support_level": null,
"aa_start": 4064,
"aa_end": null,
"aa_length": 4077,
"cds_start": 12190,
"cds_end": null,
"cds_length": 12234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545882.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12190T>C",
"hgvs_p": "p.Trp4064Arg",
"transcript": "XM_011545883.1",
"protein_id": "XP_011544185.1",
"transcript_support_level": null,
"aa_start": 4064,
"aa_end": null,
"aa_length": 4077,
"cds_start": 12190,
"cds_end": null,
"cds_length": 12234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545883.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12169T>C",
"hgvs_p": "p.Trp4057Arg",
"transcript": "XM_047434348.1",
"protein_id": "XP_047290304.1",
"transcript_support_level": null,
"aa_start": 4057,
"aa_end": null,
"aa_length": 4070,
"cds_start": 12169,
"cds_end": null,
"cds_length": 12213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434348.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.12055T>C",
"hgvs_p": "p.Trp4019Arg",
"transcript": "XM_017023426.2",
"protein_id": "XP_016878915.1",
"transcript_support_level": null,
"aa_start": 4019,
"aa_end": null,
"aa_length": 4032,
"cds_start": 12055,
"cds_end": null,
"cds_length": 12099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023426.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.11947T>C",
"hgvs_p": "p.Trp3983Arg",
"transcript": "XM_017023427.2",
"protein_id": "XP_016878916.1",
"transcript_support_level": null,
"aa_start": 3983,
"aa_end": null,
"aa_length": 3996,
"cds_start": 11947,
"cds_end": null,
"cds_length": 11991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023427.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.11926T>C",
"hgvs_p": "p.Trp3976Arg",
"transcript": "XM_047434349.1",
"protein_id": "XP_047290305.1",
"transcript_support_level": null,
"aa_start": 3976,
"aa_end": null,
"aa_length": 3989,
"cds_start": 11926,
"cds_end": null,
"cds_length": 11970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434349.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.11611T>C",
"hgvs_p": "p.Trp3871Arg",
"transcript": "XM_017023428.2",
"protein_id": "XP_016878917.1",
"transcript_support_level": null,
"aa_start": 3871,
"aa_end": null,
"aa_length": 3884,
"cds_start": 11611,
"cds_end": null,
"cds_length": 11655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023428.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.11179T>C",
"hgvs_p": "p.Trp3727Arg",
"transcript": "XM_011545886.3",
"protein_id": "XP_011544188.1",
"transcript_support_level": null,
"aa_start": 3727,
"aa_end": null,
"aa_length": 3740,
"cds_start": 11179,
"cds_end": null,
"cds_length": 11223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545886.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.9592T>C",
"hgvs_p": "p.Trp3198Arg",
"transcript": "XM_011545888.2",
"protein_id": "XP_011544190.1",
"transcript_support_level": null,
"aa_start": 3198,
"aa_end": null,
"aa_length": 3211,
"cds_start": 9592,
"cds_end": null,
"cds_length": 9636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545888.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.9592T>C",
"hgvs_p": "p.Trp3198Arg",
"transcript": "XM_011545889.2",
"protein_id": "XP_011544191.1",
"transcript_support_level": null,
"aa_start": 3198,
"aa_end": null,
"aa_length": 3211,
"cds_start": 9592,
"cds_end": null,
"cds_length": 9636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545889.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6244T>C",
"hgvs_p": "p.Trp2082Arg",
"transcript": "XM_017023430.2",
"protein_id": "XP_016878919.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2095,
"cds_start": 6244,
"cds_end": null,
"cds_length": 6288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023430.2"
}
],
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"dbsnp": null,
"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": 0.9687299728393555,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.816,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9974,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_017539.2",
"gene_symbol": "DNAH3",
"hgnc_id": 2949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12307T>C",
"hgvs_p": "p.Trp4103Arg"
}
],
"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
}