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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: 2-43810194-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43810194&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43810194,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001348913.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.997-187G>A",
"hgvs_p": null,
"transcript": "NM_001348913.2",
"protein_id": "NP_001335842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": null,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348913.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.994-187G>A",
"hgvs_p": null,
"transcript": "NM_001348912.2",
"protein_id": "NP_001335841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1763-3783C>T",
"hgvs_p": null,
"transcript": "XM_006712073.4",
"protein_id": "XP_006712136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": null,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712073.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1250-3783C>T",
"hgvs_p": null,
"transcript": "XM_047445410.1",
"protein_id": "XP_047301366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "NM_016008.4",
"protein_id": "NP_057092.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": "ENST00000260605.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016008.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000260605.12",
"protein_id": "ENSP00000260605.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": "NM_016008.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260605.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000605786.5",
"protein_id": "ENSP00000474032.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000965103.1",
"protein_id": "ENSP00000635162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000857666.1",
"protein_id": "ENSP00000527725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "NM_001193464.2",
"protein_id": "NP_001180393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193464.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000965102.1",
"protein_id": "ENSP00000635161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": null,
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"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965102.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000857669.1",
"protein_id": "ENSP00000527728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857669.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000857668.1",
"protein_id": "ENSP00000527727.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857668.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000857665.1",
"protein_id": "ENSP00000527724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000857670.1",
"protein_id": "ENSP00000527729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
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"cds_length": 987,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857670.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000965101.1",
"protein_id": "ENSP00000635160.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965101.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000857667.1",
"protein_id": "ENSP00000527726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
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"cds_length": 978,
"cdna_start": null,
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"cdna_length": 1293,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000857667.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000965104.1",
"protein_id": "ENSP00000635163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965104.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*427G>A",
"hgvs_p": null,
"transcript": "ENST00000911569.1",
"protein_id": "ENSP00000581628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1214,
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"biotype": "protein_coding",
"feature": "ENST00000911569.1"
}
],
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"dbsnp": "rs3792009",
"frequency_reference_population": 0.21986328,
"hom_count_reference_population": 4294,
"allele_count_reference_population": 33450,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.219863,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 33450,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4294,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.373,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001348913.2",
"gene_symbol": "DYNC2LI1",
"hgnc_id": 24595,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.997-187G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_006712073.4",
"gene_symbol": "ABCG5",
"hgnc_id": 13886,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1763-3783C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}