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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: 1-197539771-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197539771&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197539771,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001195215.2",
"consequences": [
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1515+193C>T",
"hgvs_p": null,
"transcript": "NM_001195215.2",
"protein_id": "NP_001182144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": null,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620048.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195215.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1515+193C>T",
"hgvs_p": null,
"transcript": "ENST00000620048.6",
"protein_id": "ENSP00000479816.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": null,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195215.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620048.6"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1461+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887109.1",
"protein_id": "ENSP00000557168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887109.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1455+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887105.1",
"protein_id": "ENSP00000557164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": null,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887105.1"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1401+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887107.1",
"protein_id": "ENSP00000557166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887107.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1389+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887108.1",
"protein_id": "ENSP00000557167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887108.1"
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1329+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887111.1",
"protein_id": "ENSP00000557170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": null,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887111.1"
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1290+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887110.1",
"protein_id": "ENSP00000557169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887110.1"
},
{
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.915+193C>T",
"hgvs_p": null,
"transcript": "ENST00000887106.1",
"protein_id": "ENSP00000557165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887106.1"
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1659+193C>T",
"hgvs_p": null,
"transcript": "XM_011509246.3",
"protein_id": "XP_011507548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": null,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509246.3"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1599+193C>T",
"hgvs_p": null,
"transcript": "XM_011509247.2",
"protein_id": "XP_011507549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": null,
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"cds_length": 2412,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509247.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1554+193C>T",
"hgvs_p": null,
"transcript": "XM_011509248.3",
"protein_id": "XP_011507550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
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"cds_length": 2367,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509248.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1485+193C>T",
"hgvs_p": null,
"transcript": "XM_011509249.3",
"protein_id": "XP_011507551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
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"cds_length": 2298,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509249.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1455+193C>T",
"hgvs_p": null,
"transcript": "XM_005244931.3",
"protein_id": "XP_005244988.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_005244931.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.1425+193C>T",
"hgvs_p": null,
"transcript": "XM_047447700.1",
"protein_id": "XP_047303656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447700.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
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"hgvs_c": "c.912+193C>T",
"hgvs_p": null,
"transcript": "XM_024453626.2",
"protein_id": "XP_024309394.1",
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"biotype": "protein_coding",
"feature": "XM_024453626.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.912+193C>T",
"hgvs_p": null,
"transcript": "XM_047447711.1",
"protein_id": "XP_047303667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
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"cds_length": 1725,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447711.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.663+193C>T",
"hgvs_p": null,
"transcript": "XM_047447715.1",
"protein_id": "XP_047303671.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 491,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047447715.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.597+193C>T",
"hgvs_p": null,
"transcript": "XM_006711194.4",
"protein_id": "XP_006711257.1",
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"biotype": "protein_coding",
"feature": "XM_006711194.4"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "n.*203+193C>T",
"hgvs_p": null,
"transcript": "ENST00000294737.11",
"protein_id": "ENSP00000294737.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000294737.11"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "n.1587+193C>T",
"hgvs_p": null,
"transcript": "NR_125340.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125340.2"
}
],
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"dbsnp": "rs4915551",
"frequency_reference_population": 0.6471165,
"hom_count_reference_population": 35642,
"allele_count_reference_population": 98407,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.647116,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 98407,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 35642,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.615,
"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_001195215.2",
"gene_symbol": "DENND1B",
"hgnc_id": 28404,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1515+193C>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
}