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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: 7-140601931-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140601931&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140601931,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015689.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "NM_015689.5",
"protein_id": "NP_056504.3",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000496613.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015689.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000496613.6",
"protein_id": "ENSP00000419654.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015689.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496613.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000275884.10",
"protein_id": "ENSP00000275884.6",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275884.10"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000537639.5",
"protein_id": "ENSP00000442245.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537639.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "n.467C>A",
"hgvs_p": null,
"transcript": "ENST00000461883.5",
"protein_id": "ENSP00000417673.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000461883.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "NM_001318052.2",
"protein_id": "NP_001304981.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318052.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "NM_001362678.2",
"protein_id": "NP_001349607.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362678.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000923108.1",
"protein_id": "ENSP00000593167.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1008,
"cds_start": 467,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923108.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000945288.1",
"protein_id": "ENSP00000615347.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1008,
"cds_start": 467,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945288.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000945289.1",
"protein_id": "ENSP00000615348.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1008,
"cds_start": 467,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945289.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000945290.1",
"protein_id": "ENSP00000615349.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1008,
"cds_start": 467,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945290.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000945287.1",
"protein_id": "ENSP00000615346.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 982,
"cds_start": 467,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945287.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000923109.1",
"protein_id": "ENSP00000593168.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 898,
"cds_start": 467,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923109.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "NM_001318053.2",
"protein_id": "NP_001304982.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 795,
"cds_start": 467,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318053.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000492720.5",
"protein_id": "ENSP00000419464.1",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 795,
"cds_start": 467,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492720.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His",
"transcript": "ENST00000491728.5",
"protein_id": "ENSP00000418844.1",
"transcript_support_level": 3,
"aa_start": 156,
"aa_end": null,
"aa_length": 156,
"cds_start": 467,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491728.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.-136-14151C>A",
"hgvs_p": null,
"transcript": "ENST00000475837.1",
"protein_id": "ENSP00000420605.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475837.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "n.612C>A",
"hgvs_p": null,
"transcript": "NR_134477.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_134477.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.*195C>A",
"hgvs_p": null,
"transcript": "ENST00000489552.1",
"protein_id": "ENSP00000418088.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489552.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"hgvs_c": "c.*231C>A",
"hgvs_p": null,
"transcript": "ENST00000477488.1",
"protein_id": "ENSP00000418760.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477488.1"
}
],
"gene_symbol": "DENND2A",
"gene_hgnc_id": 22212,
"dbsnp": "rs269243",
"frequency_reference_population": 0.9459298,
"hom_count_reference_population": 722509,
"allele_count_reference_population": 1526831,
"gnomad_exomes_af": 0.944844,
"gnomad_genomes_af": 0.956357,
"gnomad_exomes_ac": 1381260,
"gnomad_genomes_ac": 145571,
"gnomad_exomes_homalt": 652848,
"gnomad_genomes_homalt": 69661,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.422643880592659e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0466,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.999,
"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": -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_015689.5",
"gene_symbol": "DENND2A",
"hgnc_id": 22212,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.467C>A",
"hgvs_p": "p.Pro156His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}