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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: 12-8941939-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8941939&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8941939,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002355.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "NM_002355.4",
"protein_id": "NP_002346.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000000412.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002355.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000000412.8",
"protein_id": "ENSP00000000412.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002355.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000000412.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "NM_001414320.1",
"protein_id": "NP_001401249.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414320.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "NM_001414331.1",
"protein_id": "NP_001401260.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414331.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "NM_001414332.1",
"protein_id": "NP_001401261.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414332.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "NM_001414333.1",
"protein_id": "NP_001401262.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414333.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000891555.1",
"protein_id": "ENSP00000561614.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891555.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000891556.1",
"protein_id": "ENSP00000561615.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891556.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000891557.1",
"protein_id": "ENSP00000561616.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891557.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000891558.1",
"protein_id": "ENSP00000561617.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891558.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000936872.1",
"protein_id": "ENSP00000606931.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936872.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000941063.1",
"protein_id": "ENSP00000611122.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941063.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Asp238Gly",
"transcript": "ENST00000941065.1",
"protein_id": "ENSP00000611124.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941065.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "ENST00000936871.1",
"protein_id": "ENSP00000606930.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 275,
"cds_start": 707,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936871.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asp227Gly",
"transcript": "ENST00000941064.1",
"protein_id": "ENSP00000611123.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941064.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asp188Gly",
"transcript": "ENST00000936873.1",
"protein_id": "ENSP00000606932.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 227,
"cds_start": 563,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936873.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asp152Gly",
"transcript": "NM_001207024.2",
"protein_id": "NP_001193953.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 191,
"cds_start": 455,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207024.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asp152Gly",
"transcript": "ENST00000536844.5",
"protein_id": "ENSP00000440488.2",
"transcript_support_level": 3,
"aa_start": 152,
"aa_end": null,
"aa_length": 191,
"cds_start": 455,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536844.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "NM_001414322.1",
"protein_id": "NP_001401251.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 159,
"cds_start": 359,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414322.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "NM_001414323.1",
"protein_id": "NP_001401252.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 159,
"cds_start": 359,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414323.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "NM_001414324.1",
"protein_id": "NP_001401253.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 159,
"cds_start": 359,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414324.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002355.4",
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"effects": [
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"inheritance_mode": "",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"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
}