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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: 1-111195930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111195930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111195930,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024901.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"transcript": "NM_024901.5",
"protein_id": "NP_079177.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 471,
"cds_start": 631,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357640.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024901.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"transcript": "ENST00000357640.9",
"protein_id": "ENSP00000350266.4",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 471,
"cds_start": 631,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024901.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357640.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "NM_001271833.2",
"protein_id": "NP_001258762.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 468,
"cds_start": 622,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271833.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "ENST00000369752.5",
"protein_id": "ENSP00000358767.5",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 468,
"cds_start": 622,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369752.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Asp185Asn",
"transcript": "ENST00000900292.1",
"protein_id": "ENSP00000570351.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 445,
"cds_start": 553,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900292.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Asp124Asn",
"transcript": "ENST00000900293.1",
"protein_id": "ENSP00000570352.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 384,
"cds_start": 370,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900293.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "XM_006710921.3",
"protein_id": "XP_006710984.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 485,
"cds_start": 673,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710921.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"transcript": "XM_011542190.3",
"protein_id": "XP_011540492.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 459,
"cds_start": 595,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542190.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "XM_011542189.2",
"protein_id": "XP_011540491.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 415,
"cds_start": 463,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542189.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"transcript": "XM_047430867.1",
"protein_id": "XP_047286823.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 369,
"cds_start": 673,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430867.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn",
"transcript": "XM_047430868.1",
"protein_id": "XP_047286824.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 355,
"cds_start": 631,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430868.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Asp31Asn",
"transcript": "XM_017002386.2",
"protein_id": "XP_016857875.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 291,
"cds_start": 91,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002386.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Asp31Asn",
"transcript": "XM_017002387.2",
"protein_id": "XP_016857876.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 291,
"cds_start": 91,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002387.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Asp31Asn",
"transcript": "XM_017002388.2",
"protein_id": "XP_016857877.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 291,
"cds_start": 91,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002388.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Asp31Asn",
"transcript": "XM_024449898.2",
"protein_id": "XP_024305666.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 291,
"cds_start": 91,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449898.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "n.721G>A",
"hgvs_p": null,
"transcript": "ENST00000463713.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000463713.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "n.2503G>A",
"hgvs_p": null,
"transcript": "ENST00000473682.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000473682.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "n.898G>A",
"hgvs_p": null,
"transcript": "XR_946765.2",
"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": "XR_946765.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"hgvs_c": "n.*40G>A",
"hgvs_p": null,
"transcript": "ENST00000477586.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000477586.5"
}
],
"gene_symbol": "DENND2D",
"gene_hgnc_id": 26192,
"dbsnp": "rs150577405",
"frequency_reference_population": 0.00012578414,
"hom_count_reference_population": 0,
"allele_count_reference_population": 203,
"gnomad_exomes_af": 0.000136132,
"gnomad_genomes_af": 0.0000263051,
"gnomad_exomes_ac": 199,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40186807513237,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.1799,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_024901.5",
"gene_symbol": "DENND2D",
"hgnc_id": 26192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Asp211Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}