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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: 2-144424804-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144424804&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 144424804,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014795.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "NM_014795.4",
"protein_id": "NP_055610.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000627532.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014795.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000627532.3",
"protein_id": "ENSP00000487174.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014795.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627532.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000558170.6",
"protein_id": "ENSP00000454157.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558170.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Asn131Ser",
"transcript": "ENST00000303660.8",
"protein_id": "ENSP00000302501.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 1213,
"cds_start": 392,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303660.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Asn161Ser",
"transcript": "ENST00000427902.5",
"protein_id": "ENSP00000395496.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 730,
"cds_start": 482,
"cds_end": null,
"cds_length": 2194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427902.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.479A>G",
"hgvs_p": "p.Asn160Ser",
"transcript": "ENST00000392861.6",
"protein_id": "ENSP00000376601.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 466,
"cds_start": 479,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392861.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000636471.1",
"protein_id": "ENSP00000490317.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 1239,
"cds_start": 395,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636471.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000409487.7",
"protein_id": "ENSP00000386854.2",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409487.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000886176.1",
"protein_id": "ENSP00000556235.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886176.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000886177.1",
"protein_id": "ENSP00000556236.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886177.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000886179.1",
"protein_id": "ENSP00000556238.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886179.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000965901.1",
"protein_id": "ENSP00000635960.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965901.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000965902.1",
"protein_id": "ENSP00000635961.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1214,
"cds_start": 395,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965902.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000636026.2",
"protein_id": "ENSP00000490776.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 1202,
"cds_start": 395,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636026.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asn20Ser",
"transcript": "ENST00000636413.1",
"protein_id": "ENSP00000490508.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1102,
"cds_start": 59,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636413.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asn20Ser",
"transcript": "ENST00000637045.1",
"protein_id": "ENSP00000490141.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1102,
"cds_start": 59,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637045.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asn20Ser",
"transcript": "ENST00000637304.1",
"protein_id": "ENSP00000490872.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1102,
"cds_start": 59,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637304.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asn20Ser",
"transcript": "ENST00000638007.1",
"protein_id": "ENSP00000490723.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1102,
"cds_start": 59,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638007.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000637267.2",
"protein_id": "ENSP00000490293.2",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 611,
"cds_start": 395,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637267.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Asn132Ser",
"transcript": "ENST00000465308.5",
"protein_id": "ENSP00000487476.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 140,
"cds_start": 395,
"cds_end": null,
"cds_length": 425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465308.5"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.331+4965A>G",
"hgvs_p": null,
"transcript": "NM_001171653.2",
"protein_id": "NP_001165124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171653.2"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.331+4965A>G",
"hgvs_p": null,
"transcript": "ENST00000539609.7",
"protein_id": "ENSP00000443792.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539609.7"
},
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.668,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -14,
"acmg_classification": "Benign",
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{
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"criteria": [
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"BS2"
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"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Mowat-Wilson syndrome,ZEB2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Mowat-Wilson syndrome|not provided|ZEB2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}