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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: 1-153933212-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153933212&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153933212,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001367466.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3438G>T",
"hgvs_p": "p.Gln1146His",
"transcript": "NM_014856.3",
"protein_id": "NP_055671.2",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361217.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014856.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3438G>T",
"hgvs_p": "p.Gln1146His",
"transcript": "ENST00000361217.9",
"protein_id": "ENSP00000354597.4",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014856.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361217.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3471G>T",
"hgvs_p": "p.Gln1157His",
"transcript": "NM_001367466.1",
"protein_id": "NP_001354395.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1507,
"cds_start": 3471,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367466.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3441G>T",
"hgvs_p": "p.Gln1147His",
"transcript": "ENST00000877431.1",
"protein_id": "ENSP00000547490.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3441,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877431.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3441G>T",
"hgvs_p": "p.Gln1147His",
"transcript": "ENST00000912808.1",
"protein_id": "ENSP00000582867.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3441,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912808.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3438G>T",
"hgvs_p": "p.Gln1146His",
"transcript": "ENST00000877427.1",
"protein_id": "ENSP00000547486.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877427.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3438G>T",
"hgvs_p": "p.Gln1146His",
"transcript": "ENST00000912807.1",
"protein_id": "ENSP00000582866.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912807.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3438G>T",
"hgvs_p": "p.Gln1146His",
"transcript": "ENST00000912811.1",
"protein_id": "ENSP00000582870.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912811.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3270G>T",
"hgvs_p": "p.Gln1090His",
"transcript": "ENST00000877430.1",
"protein_id": "ENSP00000547489.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3270,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877430.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3222G>T",
"hgvs_p": "p.Gln1074His",
"transcript": "ENST00000912806.1",
"protein_id": "ENSP00000582865.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1424,
"cds_start": 3222,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912806.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3198G>T",
"hgvs_p": "p.Gln1066His",
"transcript": "ENST00000877429.1",
"protein_id": "ENSP00000547488.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3198,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877429.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3114G>T",
"hgvs_p": "p.Gln1038His",
"transcript": "ENST00000877428.1",
"protein_id": "ENSP00000547487.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3114,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877428.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.2907G>T",
"hgvs_p": "p.Gln969His",
"transcript": "ENST00000912809.1",
"protein_id": "ENSP00000582868.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2907,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912809.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3471G>T",
"hgvs_p": "p.Gln1157His",
"transcript": "ENST00000368646.6",
"protein_id": "ENSP00000357635.2",
"transcript_support_level": 5,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368646.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3828G>T",
"hgvs_p": "p.Gln1276His",
"transcript": "XM_047435912.1",
"protein_id": "XP_047291868.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1626,
"cds_start": 3828,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435912.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3768G>T",
"hgvs_p": "p.Gln1256His",
"transcript": "XM_047435917.1",
"protein_id": "XP_047291873.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3768,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435917.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3735G>T",
"hgvs_p": "p.Gln1245His",
"transcript": "XM_047435921.1",
"protein_id": "XP_047291877.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1595,
"cds_start": 3735,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435921.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3735G>T",
"hgvs_p": "p.Gln1245His",
"transcript": "XM_047435943.1",
"protein_id": "XP_047291899.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1595,
"cds_start": 3735,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435943.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3588G>T",
"hgvs_p": "p.Gln1196His",
"transcript": "XM_047435915.1",
"protein_id": "XP_047291871.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1546,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435915.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3531G>T",
"hgvs_p": "p.Gln1177His",
"transcript": "XM_047435916.1",
"protein_id": "XP_047291872.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1527,
"cds_start": 3531,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435916.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Gln1140His",
"transcript": "XM_047435933.1",
"protein_id": "XP_047291889.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1490,
"cds_start": 3420,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435933.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND4B",
"gene_hgnc_id": 29044,
"hgvs_c": "c.3315G>T",
"hgvs_p": "p.Gln1105His",
"transcript": "XM_011510219.2",
"protein_id": "XP_011508521.2",
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"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13341176509857178,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.191,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367466.1",
"gene_symbol": "DENND4B",
"hgnc_id": 29044,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3471G>T",
"hgvs_p": "p.Gln1157His"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000820662.1",
"gene_symbol": "ENSG00000284738",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.825C>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_426845.5",
"gene_symbol": "LOC101928059",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.727-1537C>A",
"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
}