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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: 16-20963418-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20963418&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAH3",
"hgnc_id": 2949,
"hgvs_c": "c.10466G>A",
"hgvs_p": "p.Arg3489Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_017539.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 55367,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.089,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0035296976566314697,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4070,
"aa_ref": "R",
"aa_start": 3443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12567,
"cdna_start": 10639,
"cds_end": null,
"cds_length": 12213,
"cds_start": 10328,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "NM_001347886.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10328G>A",
"hgvs_p": "p.Arg3443Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000698260.1",
"protein_coding": true,
"protein_id": "NP_001334815.1",
"strand": false,
"transcript": "NM_001347886.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4070,
"aa_ref": "R",
"aa_start": 3443,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12567,
"cdna_start": 10639,
"cds_end": null,
"cds_length": 12213,
"cds_start": 10328,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000698260.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10328G>A",
"hgvs_p": "p.Arg3443Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001347886.2",
"protein_coding": true,
"protein_id": "ENSP00000513632.1",
"strand": false,
"transcript": "ENST00000698260.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4116,
"aa_ref": "R",
"aa_start": 3489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12394,
"cdna_start": 10466,
"cds_end": null,
"cds_length": 12351,
"cds_start": 10466,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000261383.3",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10466G>A",
"hgvs_p": "p.Arg3489Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261383.3",
"strand": false,
"transcript": "ENST00000261383.3",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4130,
"aa_ref": "R",
"aa_start": 3503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12436,
"cdna_start": 10508,
"cds_end": null,
"cds_length": 12393,
"cds_start": 10508,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000685858.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10508G>A",
"hgvs_p": "p.Arg3503Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508756.1",
"strand": false,
"transcript": "ENST00000685858.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4116,
"aa_ref": "R",
"aa_start": 3489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12394,
"cdna_start": 10466,
"cds_end": null,
"cds_length": 12351,
"cds_start": 10466,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "NM_017539.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10466G>A",
"hgvs_p": "p.Arg3489Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060009.1",
"strand": false,
"transcript": "NM_017539.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4130,
"aa_ref": "R",
"aa_start": 3503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12454,
"cdna_start": 10526,
"cds_end": null,
"cds_length": 12393,
"cds_start": 10508,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_017023432.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10508G>A",
"hgvs_p": "p.Arg3503Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878921.1",
"strand": false,
"transcript": "XM_017023432.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4077,
"aa_ref": "R",
"aa_start": 3450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12743,
"cdna_start": 10815,
"cds_end": null,
"cds_length": 12234,
"cds_start": 10349,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_011545882.3",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10349G>A",
"hgvs_p": "p.Arg3450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544184.1",
"strand": false,
"transcript": "XM_011545882.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4077,
"aa_ref": "R",
"aa_start": 3450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12740,
"cdna_start": 10812,
"cds_end": null,
"cds_length": 12234,
"cds_start": 10349,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_011545883.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10349G>A",
"hgvs_p": "p.Arg3450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544185.1",
"strand": false,
"transcript": "XM_011545883.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4070,
"aa_ref": "R",
"aa_start": 3443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13167,
"cdna_start": 11239,
"cds_end": null,
"cds_length": 12213,
"cds_start": 10328,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_047434348.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10328G>A",
"hgvs_p": "p.Arg3443Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290304.1",
"strand": false,
"transcript": "XM_047434348.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4032,
"aa_ref": "R",
"aa_start": 3405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12608,
"cdna_start": 10680,
"cds_end": null,
"cds_length": 12099,
"cds_start": 10214,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_017023426.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10214G>A",
"hgvs_p": "p.Arg3405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878915.1",
"strand": false,
"transcript": "XM_017023426.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3996,
"aa_ref": "R",
"aa_start": 3369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12500,
"cdna_start": 10572,
"cds_end": null,
"cds_length": 11991,
"cds_start": 10106,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_017023427.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10106G>A",
"hgvs_p": "p.Arg3369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878916.1",
"strand": false,
"transcript": "XM_017023427.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3989,
"aa_ref": "R",
"aa_start": 3362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12946,
"cdna_start": 11018,
"cds_end": null,
"cds_length": 11970,
"cds_start": 10085,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_047434349.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10085G>A",
"hgvs_p": "p.Arg3362Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290305.1",
"strand": false,
"transcript": "XM_047434349.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3884,
"aa_ref": "R",
"aa_start": 3257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12164,
"cdna_start": 10236,
"cds_end": null,
"cds_length": 11655,
"cds_start": 9770,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "XM_017023428.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.9770G>A",
"hgvs_p": "p.Arg3257Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878917.1",
"strand": false,
"transcript": "XM_017023428.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3771,
"aa_ref": "R",
"aa_start": 3450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11911,
"cdna_start": 10815,
"cds_end": null,
"cds_length": 11316,
"cds_start": 10349,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_011545885.4",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.10349G>A",
"hgvs_p": "p.Arg3450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544187.1",
"strand": false,
"transcript": "XM_011545885.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3740,
"aa_ref": "R",
"aa_start": 3113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11573,
"cdna_start": 9645,
"cds_end": null,
"cds_length": 11223,
"cds_start": 9338,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011545886.3",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.9338G>A",
"hgvs_p": "p.Arg3113Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544188.1",
"strand": false,
"transcript": "XM_011545886.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3211,
"aa_ref": "R",
"aa_start": 2584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9791,
"cdna_start": 7863,
"cds_end": null,
"cds_length": 9636,
"cds_start": 7751,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011545888.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.7751G>A",
"hgvs_p": "p.Arg2584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544190.1",
"strand": false,
"transcript": "XM_011545888.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 3211,
"aa_ref": "R",
"aa_start": 2584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9755,
"cdna_start": 7827,
"cds_end": null,
"cds_length": 9636,
"cds_start": 7751,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011545889.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.7751G>A",
"hgvs_p": "p.Arg2584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544191.1",
"strand": false,
"transcript": "XM_011545889.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2095,
"aa_ref": "R",
"aa_start": 1468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6416,
"cdna_start": 4488,
"cds_end": null,
"cds_length": 6288,
"cds_start": 4403,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017023430.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Arg1468Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878919.1",
"strand": false,
"transcript": "XM_017023430.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs111539520",
"effect": "missense_variant",
"frequency_reference_population": 0.034302343,
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"gnomad_exomes_ac": 52085,
"gnomad_exomes_af": 0.0356287,
"gnomad_exomes_homalt": 1145,
"gnomad_genomes_ac": 3282,
"gnomad_genomes_af": 0.0215632,
"gnomad_genomes_homalt": 57,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1202,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.338,
"pos": 20963418,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.056,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017539.2"
}
]
}