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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: 12-6587897-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6587897&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6587897,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000544040.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3518G>A",
"hgvs_p": "p.Arg1173Gln",
"transcript": "NM_001273.5",
"protein_id": "NP_001264.2",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1912,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": "ENST00000544040.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3518G>A",
"hgvs_p": "p.Arg1173Gln",
"transcript": "ENST00000544040.7",
"protein_id": "ENSP00000440542.2",
"transcript_support_level": 5,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1912,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 3676,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": "NM_001273.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160Gln",
"transcript": "ENST00000357008.7",
"protein_id": "ENSP00000349508.3",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1902,
"cds_start": 3479,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 3614,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.3497G>A",
"hgvs_p": null,
"transcript": "ENST00000644480.2",
"protein_id": "ENSP00000493629.2",
"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": 8502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3518G>A",
"hgvs_p": "p.Arg1173Gln",
"transcript": "ENST00000645095.1",
"protein_id": "ENSP00000496634.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1940,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 3518,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3509G>A",
"hgvs_p": "p.Arg1170Gln",
"transcript": "ENST00000544484.6",
"protein_id": "ENSP00000440392.1",
"transcript_support_level": 2,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3509,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 6555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3458G>A",
"hgvs_p": "p.Arg1153Gln",
"transcript": "ENST00000642879.1",
"protein_id": "ENSP00000494456.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1920,
"cds_start": 3458,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 3519,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3518G>A",
"hgvs_p": "p.Arg1173Gln",
"transcript": "ENST00000645005.1",
"protein_id": "ENSP00000493471.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1914,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 6175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "NM_001297553.2",
"protein_id": "NP_001284482.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1905,
"cds_start": 3497,
"cds_end": null,
"cds_length": 5718,
"cdna_start": 3575,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "ENST00000645022.1",
"protein_id": "ENSP00000496163.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1905,
"cds_start": 3497,
"cds_end": null,
"cds_length": 5718,
"cdna_start": 3858,
"cdna_end": null,
"cdna_length": 6673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"transcript": "ENST00000643335.1",
"protein_id": "ENSP00000496358.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1903,
"cds_start": 3497,
"cds_end": null,
"cds_length": 5712,
"cdna_start": 3704,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160Gln",
"transcript": "NM_001363606.2",
"protein_id": "NP_001350535.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1902,
"cds_start": 3479,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 3637,
"cdna_end": null,
"cdna_length": 6461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160Gln",
"transcript": "ENST00000645645.1",
"protein_id": "ENSP00000496543.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1899,
"cds_start": 3479,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3458G>A",
"hgvs_p": "p.Arg1153Gln",
"transcript": "ENST00000646806.1",
"protein_id": "ENSP00000494574.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1892,
"cds_start": 3458,
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"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3443G>A",
"hgvs_p": "p.Arg1148Gln",
"transcript": "ENST00000642594.1",
"protein_id": "ENSP00000493619.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1888,
"cds_start": 3443,
"cds_end": null,
"cds_length": 5667,
"cdna_start": 3444,
"cdna_end": null,
"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.3485G>A",
"hgvs_p": "p.Arg1162Gln",
"transcript": "ENST00000644289.1",
"protein_id": "ENSP00000496707.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1668,
"cds_start": 3485,
"cds_end": null,
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"cdna_start": 3485,
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"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815Gln",
"transcript": "ENST00000646608.1",
"protein_id": "ENSP00000493829.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1553,
"cds_start": 2444,
"cds_end": null,
"cds_length": 4662,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745Gln",
"transcript": "ENST00000643815.1",
"protein_id": "ENSP00000494247.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1483,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.1517G>A",
"hgvs_p": "p.Arg506Gln",
"transcript": "ENST00000647483.1",
"protein_id": "ENSP00000494126.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 1261,
"cds_start": 1517,
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"cdna_start": 1519,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Arg459Gln",
"transcript": "ENST00000644352.1",
"protein_id": "ENSP00000494981.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1376,
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"cds_length": 3648,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000540960.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "n.3458G>A",
"hgvs_p": null,
"transcript": "ENST00000642810.1",
"protein_id": "ENSP00000495160.1",
"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": 6630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "n.53G>A",
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],
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"dbsnp": "rs886039918",
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"gnomad_exomes_af": 6.84045e-7,
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"computational_score_selected": 0.9230211973190308,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.797,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.866,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000544040.7",
"gene_symbol": "CHD4",
"hgnc_id": 1919,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3518G>A",
"hgvs_p": "p.Arg1173Gln"
},
{
"score": 12,
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"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000644480.2",
"gene_symbol": "ENSG00000285238",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.3497G>A",
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}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}