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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: 11-9180769-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9180769&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9180769,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000328194.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "NM_015213.4",
"protein_id": "NP_056028.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "ENST00000328194.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "ENST00000328194.8",
"protein_id": "ENSP00000328524.3",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "NM_015213.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "ENST00000679568.1",
"protein_id": "ENSP00000505860.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1307,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "NM_001348749.2",
"protein_id": "NP_001335678.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1263,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Lys461Glu",
"transcript": "ENST00000681203.1",
"protein_id": "ENSP00000506456.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1263,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "NM_001243254.2",
"protein_id": "NP_001230183.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "ENST00000530044.5",
"protein_id": "ENSP00000435866.1",
"transcript_support_level": 2,
"aa_start": 485,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "ENST00000680294.1",
"protein_id": "ENSP00000506113.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1218,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.1165A>G",
"hgvs_p": "p.Lys389Glu",
"transcript": "NM_001348750.2",
"protein_id": "NP_001335679.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 1191,
"cds_start": 1165,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1381A>G",
"hgvs_p": null,
"transcript": "ENST00000526707.5",
"protein_id": "ENSP00000436780.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.*1279A>G",
"hgvs_p": null,
"transcript": "ENST00000530780.2",
"protein_id": "ENSP00000433925.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1242A>G",
"hgvs_p": null,
"transcript": "ENST00000530867.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1374A>G",
"hgvs_p": null,
"transcript": "ENST00000679446.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1242A>G",
"hgvs_p": null,
"transcript": "ENST00000679460.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1242A>G",
"hgvs_p": null,
"transcript": "ENST00000679745.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1453A>G",
"hgvs_p": null,
"transcript": "ENST00000679999.1",
"protein_id": "ENSP00000505198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1240A>G",
"hgvs_p": null,
"transcript": "ENST00000680252.1",
"protein_id": "ENSP00000505222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.752A>G",
"hgvs_p": null,
"transcript": "ENST00000680358.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1453A>G",
"hgvs_p": null,
"transcript": "ENST00000680470.1",
"protein_id": "ENSP00000505975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1165A>G",
"hgvs_p": null,
"transcript": "ENST00000680554.1",
"protein_id": "ENSP00000505621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1242A>G",
"hgvs_p": null,
"transcript": "ENST00000680576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1370A>G",
"hgvs_p": null,
"transcript": "ENST00000680599.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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{
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},
{
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],
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}
],
"gene_symbol": "DENND5A",
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"dbsnp": "rs146646020",
"frequency_reference_population": 0.0009537018,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1539,
"gnomad_exomes_af": 0.000970294,
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"gnomad_exomes_ac": 1418,
"gnomad_genomes_ac": 121,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1178729236125946,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.057999998331069946,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.2792,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0027553354839079,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000328194.8",
"gene_symbol": "DENND5A",
"hgnc_id": 19344,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu"
}
],
"clinvar_disease": " 49,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "not provided|Inborn genetic diseases|Developmental and epileptic encephalopathy, 49",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}