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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: 16-20987398-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20987398&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20987398,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000698260.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6795C>G",
"hgvs_p": "p.Phe2265Leu",
"transcript": "NM_001347886.2",
"protein_id": "NP_001334815.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 4070,
"cds_start": 6795,
"cds_end": null,
"cds_length": 12213,
"cdna_start": 7106,
"cdna_end": null,
"cdna_length": 12567,
"mane_select": "ENST00000698260.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6795C>G",
"hgvs_p": "p.Phe2265Leu",
"transcript": "ENST00000698260.1",
"protein_id": "ENSP00000513632.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 4070,
"cds_start": 6795,
"cds_end": null,
"cds_length": 12213,
"cdna_start": 7106,
"cdna_end": null,
"cdna_length": 12567,
"mane_select": "NM_001347886.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6933C>G",
"hgvs_p": "p.Phe2311Leu",
"transcript": "ENST00000261383.3",
"protein_id": "ENSP00000261383.3",
"transcript_support_level": 1,
"aa_start": 2311,
"aa_end": null,
"aa_length": 4116,
"cds_start": 6933,
"cds_end": null,
"cds_length": 12351,
"cdna_start": 6933,
"cdna_end": null,
"cdna_length": 12394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6975C>G",
"hgvs_p": "p.Phe2325Leu",
"transcript": "ENST00000685858.1",
"protein_id": "ENSP00000508756.1",
"transcript_support_level": null,
"aa_start": 2325,
"aa_end": null,
"aa_length": 4130,
"cds_start": 6975,
"cds_end": null,
"cds_length": 12393,
"cdna_start": 6975,
"cdna_end": null,
"cdna_length": 12436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6933C>G",
"hgvs_p": "p.Phe2311Leu",
"transcript": "NM_017539.2",
"protein_id": "NP_060009.1",
"transcript_support_level": null,
"aa_start": 2311,
"aa_end": null,
"aa_length": 4116,
"cds_start": 6933,
"cds_end": null,
"cds_length": 12351,
"cdna_start": 6933,
"cdna_end": null,
"cdna_length": 12394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6975C>G",
"hgvs_p": "p.Phe2325Leu",
"transcript": "XM_017023432.2",
"protein_id": "XP_016878921.1",
"transcript_support_level": null,
"aa_start": 2325,
"aa_end": null,
"aa_length": 4130,
"cds_start": 6975,
"cds_end": null,
"cds_length": 12393,
"cdna_start": 6993,
"cdna_end": null,
"cdna_length": 12454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6816C>G",
"hgvs_p": "p.Phe2272Leu",
"transcript": "XM_011545882.3",
"protein_id": "XP_011544184.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 4077,
"cds_start": 6816,
"cds_end": null,
"cds_length": 12234,
"cdna_start": 7282,
"cdna_end": null,
"cdna_length": 12743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6816C>G",
"hgvs_p": "p.Phe2272Leu",
"transcript": "XM_011545883.1",
"protein_id": "XP_011544185.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 4077,
"cds_start": 6816,
"cds_end": null,
"cds_length": 12234,
"cdna_start": 7279,
"cdna_end": null,
"cdna_length": 12740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6795C>G",
"hgvs_p": "p.Phe2265Leu",
"transcript": "XM_047434348.1",
"protein_id": "XP_047290304.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 4070,
"cds_start": 6795,
"cds_end": null,
"cds_length": 12213,
"cdna_start": 7706,
"cdna_end": null,
"cdna_length": 13167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6681C>G",
"hgvs_p": "p.Phe2227Leu",
"transcript": "XM_017023426.2",
"protein_id": "XP_016878915.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 4032,
"cds_start": 6681,
"cds_end": null,
"cds_length": 12099,
"cdna_start": 7147,
"cdna_end": null,
"cdna_length": 12608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6573C>G",
"hgvs_p": "p.Phe2191Leu",
"transcript": "XM_017023427.2",
"protein_id": "XP_016878916.1",
"transcript_support_level": null,
"aa_start": 2191,
"aa_end": null,
"aa_length": 3996,
"cds_start": 6573,
"cds_end": null,
"cds_length": 11991,
"cdna_start": 7039,
"cdna_end": null,
"cdna_length": 12500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6552C>G",
"hgvs_p": "p.Phe2184Leu",
"transcript": "XM_047434349.1",
"protein_id": "XP_047290305.1",
"transcript_support_level": null,
"aa_start": 2184,
"aa_end": null,
"aa_length": 3989,
"cds_start": 6552,
"cds_end": null,
"cds_length": 11970,
"cdna_start": 7485,
"cdna_end": null,
"cdna_length": 12946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6237C>G",
"hgvs_p": "p.Phe2079Leu",
"transcript": "XM_017023428.2",
"protein_id": "XP_016878917.1",
"transcript_support_level": null,
"aa_start": 2079,
"aa_end": null,
"aa_length": 3884,
"cds_start": 6237,
"cds_end": null,
"cds_length": 11655,
"cdna_start": 6703,
"cdna_end": null,
"cdna_length": 12164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6816C>G",
"hgvs_p": "p.Phe2272Leu",
"transcript": "XM_011545885.4",
"protein_id": "XP_011544187.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 3771,
"cds_start": 6816,
"cds_end": null,
"cds_length": 11316,
"cdna_start": 7282,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.5805C>G",
"hgvs_p": "p.Phe1935Leu",
"transcript": "XM_011545886.3",
"protein_id": "XP_011544188.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 3740,
"cds_start": 5805,
"cds_end": null,
"cds_length": 11223,
"cdna_start": 6112,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.4218C>G",
"hgvs_p": "p.Phe1406Leu",
"transcript": "XM_011545888.2",
"protein_id": "XP_011544190.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 3211,
"cds_start": 4218,
"cds_end": null,
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"cdna_start": 4330,
"cdna_end": null,
"cdna_length": 9791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.4218C>G",
"hgvs_p": "p.Phe1406Leu",
"transcript": "XM_011545889.2",
"protein_id": "XP_011544191.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 3211,
"cds_start": 4218,
"cds_end": null,
"cds_length": 9636,
"cdna_start": 4294,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.6816C>G",
"hgvs_p": "p.Phe2272Leu",
"transcript": "XM_017023429.2",
"protein_id": "XP_016878918.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 2324,
"cds_start": 6816,
"cds_end": null,
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"cdna_start": 7282,
"cdna_end": null,
"cdna_length": 8109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Phe290Leu",
"transcript": "XM_017023430.2",
"protein_id": "XP_016878919.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 2095,
"cds_start": 870,
"cds_end": null,
"cds_length": 6288,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH3",
"gene_hgnc_id": 2949,
"dbsnp": "rs111770788",
"frequency_reference_population": 0.0000020521547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9089519381523132,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.471,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9897,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.36,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000698260.1",
"gene_symbol": "DNAH3",
"hgnc_id": 2949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6795C>G",
"hgvs_p": "p.Phe2265Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}