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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: 16-21111703-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21111703&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 21111703,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_017539.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1842T>C",
"hgvs_p": "p.Asp614Asp",
"transcript": "NM_001347886.2",
"protein_id": "NP_001334815.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 4070,
"cds_start": 1842,
"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": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1842T>C",
"hgvs_p": "p.Asp614Asp",
"transcript": "ENST00000698260.1",
"protein_id": "ENSP00000513632.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 4070,
"cds_start": 1842,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.2022T>C",
"hgvs_p": "p.Asp674Asp",
"transcript": "ENST00000261383.3",
"protein_id": "ENSP00000261383.3",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 4116,
"cds_start": 2022,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.2022T>C",
"hgvs_p": "p.Asp674Asp",
"transcript": "ENST00000685858.1",
"protein_id": "ENSP00000508756.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 4130,
"cds_start": 2022,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.2022T>C",
"hgvs_p": "p.Asp674Asp",
"transcript": "NM_017539.2",
"protein_id": "NP_060009.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 4116,
"cds_start": 2022,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1842T>C",
"hgvs_p": "p.Asp614Asp",
"transcript": "NM_001394581.1",
"protein_id": "NP_001381510.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 753,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394581.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.2022T>C",
"hgvs_p": "p.Asp674Asp",
"transcript": "XM_017023432.2",
"protein_id": "XP_016878921.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 4130,
"cds_start": 2022,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_011545882.3",
"protein_id": "XP_011544184.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 4077,
"cds_start": 1863,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_011545883.1",
"protein_id": "XP_011544185.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 4077,
"cds_start": 1863,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1842T>C",
"hgvs_p": "p.Asp614Asp",
"transcript": "XM_047434348.1",
"protein_id": "XP_047290304.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 4070,
"cds_start": 1842,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_017023426.2",
"protein_id": "XP_016878915.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 4032,
"cds_start": 1863,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1620T>C",
"hgvs_p": "p.Asp540Asp",
"transcript": "XM_017023427.2",
"protein_id": "XP_016878916.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 3996,
"cds_start": 1620,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1599T>C",
"hgvs_p": "p.Asp533Asp",
"transcript": "XM_047434349.1",
"protein_id": "XP_047290305.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 3989,
"cds_start": 1599,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_017023428.2",
"protein_id": "XP_016878917.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 3884,
"cds_start": 1863,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_011545885.4",
"protein_id": "XP_011544187.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 3771,
"cds_start": 1863,
"cds_end": null,
"cds_length": 11316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545885.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.852T>C",
"hgvs_p": "p.Asp284Asp",
"transcript": "XM_011545886.3",
"protein_id": "XP_011544188.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 3740,
"cds_start": 852,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_017023429.2",
"protein_id": "XP_016878918.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 2324,
"cds_start": 1863,
"cds_end": null,
"cds_length": 6975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023429.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Asp621Asp",
"transcript": "XM_017023431.2",
"protein_id": "XP_016878920.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 1848,
"cds_start": 1863,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023431.2"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "n.2118T>C",
"hgvs_p": null,
"transcript": "ENST00000396036.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000396036.5"
}
],
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"dbsnp": "rs144106056",
"frequency_reference_population": 0.0006611109,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1067,
"gnomad_exomes_af": 0.000663571,
"gnomad_genomes_af": 0.000637478,
"gnomad_exomes_ac": 970,
"gnomad_genomes_ac": 97,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.151,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017539.2",
"gene_symbol": "DNAH3",
"hgnc_id": 2949,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2022T>C",
"hgvs_p": "p.Asp674Asp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}