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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: 16-21067372-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21067372&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 21067372,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000698260.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3291A>T",
"hgvs_p": "p.Ala1097Ala",
"transcript": "NM_001347886.2",
"protein_id": "NP_001334815.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 4070,
"cds_start": 3291,
"cds_end": null,
"cds_length": 12213,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 12567,
"mane_select": "ENST00000698260.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3291A>T",
"hgvs_p": "p.Ala1097Ala",
"transcript": "ENST00000698260.1",
"protein_id": "ENSP00000513632.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 4070,
"cds_start": 3291,
"cds_end": null,
"cds_length": 12213,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 12567,
"mane_select": "NM_001347886.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3429A>T",
"hgvs_p": "p.Ala1143Ala",
"transcript": "ENST00000261383.3",
"protein_id": "ENSP00000261383.3",
"transcript_support_level": 1,
"aa_start": 1143,
"aa_end": null,
"aa_length": 4116,
"cds_start": 3429,
"cds_end": null,
"cds_length": 12351,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 12394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3471A>T",
"hgvs_p": "p.Ala1157Ala",
"transcript": "ENST00000685858.1",
"protein_id": "ENSP00000508756.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 4130,
"cds_start": 3471,
"cds_end": null,
"cds_length": 12393,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 12436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3429A>T",
"hgvs_p": "p.Ala1143Ala",
"transcript": "NM_017539.2",
"protein_id": "NP_060009.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 4116,
"cds_start": 3429,
"cds_end": null,
"cds_length": 12351,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 12394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3471A>T",
"hgvs_p": "p.Ala1157Ala",
"transcript": "XM_017023432.2",
"protein_id": "XP_016878921.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 4130,
"cds_start": 3471,
"cds_end": null,
"cds_length": 12393,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 12454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_011545882.3",
"protein_id": "XP_011544184.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 4077,
"cds_start": 3312,
"cds_end": null,
"cds_length": 12234,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 12743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_011545883.1",
"protein_id": "XP_011544185.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 4077,
"cds_start": 3312,
"cds_end": null,
"cds_length": 12234,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 12740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3291A>T",
"hgvs_p": "p.Ala1097Ala",
"transcript": "XM_047434348.1",
"protein_id": "XP_047290304.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 4070,
"cds_start": 3291,
"cds_end": null,
"cds_length": 12213,
"cdna_start": 4202,
"cdna_end": null,
"cdna_length": 13167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_017023426.2",
"protein_id": "XP_016878915.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 4032,
"cds_start": 3312,
"cds_end": null,
"cds_length": 12099,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 12608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3069A>T",
"hgvs_p": "p.Ala1023Ala",
"transcript": "XM_017023427.2",
"protein_id": "XP_016878916.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 3996,
"cds_start": 3069,
"cds_end": null,
"cds_length": 11991,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 12500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3048A>T",
"hgvs_p": "p.Ala1016Ala",
"transcript": "XM_047434349.1",
"protein_id": "XP_047290305.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 3989,
"cds_start": 3048,
"cds_end": null,
"cds_length": 11970,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 12946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_017023428.2",
"protein_id": "XP_016878917.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 3884,
"cds_start": 3312,
"cds_end": null,
"cds_length": 11655,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 12164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_011545885.4",
"protein_id": "XP_011544187.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 3771,
"cds_start": 3312,
"cds_end": null,
"cds_length": 11316,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 11911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.2301A>T",
"hgvs_p": "p.Ala767Ala",
"transcript": "XM_011545886.3",
"protein_id": "XP_011544188.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 3740,
"cds_start": 2301,
"cds_end": null,
"cds_length": 11223,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.714A>T",
"hgvs_p": "p.Ala238Ala",
"transcript": "XM_011545888.2",
"protein_id": "XP_011544190.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 3211,
"cds_start": 714,
"cds_end": null,
"cds_length": 9636,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 9791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.714A>T",
"hgvs_p": "p.Ala238Ala",
"transcript": "XM_011545889.2",
"protein_id": "XP_011544191.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 3211,
"cds_start": 714,
"cds_end": null,
"cds_length": 9636,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_017023429.2",
"protein_id": "XP_016878918.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 2324,
"cds_start": 3312,
"cds_end": null,
"cds_length": 6975,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 8109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.3312A>T",
"hgvs_p": "p.Ala1104Ala",
"transcript": "XM_017023431.2",
"protein_id": "XP_016878920.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1848,
"cds_start": 3312,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 6406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"dbsnp": "rs861424",
"frequency_reference_population": 0.0037762835,
"hom_count_reference_population": 211,
"allele_count_reference_population": 6094,
"gnomad_exomes_af": 0.00196687,
"gnomad_genomes_af": 0.0211715,
"gnomad_exomes_ac": 2875,
"gnomad_genomes_ac": 3219,
"gnomad_exomes_homalt": 91,
"gnomad_genomes_homalt": 120,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.251,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000698260.1",
"gene_symbol": "DNAH3",
"hgnc_id": 2949,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3291A>T",
"hgvs_p": "p.Ala1097Ala"
}
],
"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
}