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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: 9-136418848-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136418848&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136418848,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371717.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"transcript": "NM_015160.3",
"protein_id": "NP_055975.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 525,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": "ENST00000371717.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"transcript": "ENST00000371717.8",
"protein_id": "ENSP00000360782.3",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 525,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": "NM_015160.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"transcript": "ENST00000444897.3",
"protein_id": "ENSP00000408393.2",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 563,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"transcript": "ENST00000706376.1",
"protein_id": "ENSP00000516358.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 548,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Ala277Val",
"transcript": "NM_001282946.2",
"protein_id": "NP_001269875.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 425,
"cds_start": 830,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "NM_001282944.2",
"protein_id": "NP_001269873.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 394,
"cds_start": 737,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"transcript": "XM_005266059.4",
"protein_id": "XP_005266116.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 563,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"transcript": "XM_011518417.4",
"protein_id": "XP_011516719.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 381,
"cds_start": 584,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.*594C>T",
"hgvs_p": null,
"transcript": "ENST00000399219.7",
"protein_id": "ENSP00000416702.3",
"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": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.1381C>T",
"hgvs_p": null,
"transcript": "ENST00000462616.1",
"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": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.1717C>T",
"hgvs_p": null,
"transcript": "ENST00000612553.5",
"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": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.1130C>T",
"hgvs_p": null,
"transcript": "ENST00000706227.1",
"protein_id": "ENSP00000516285.1",
"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": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.1130C>T",
"hgvs_p": null,
"transcript": "ENST00000706228.1",
"protein_id": "ENSP00000516286.1",
"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,
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"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.1130C>T",
"hgvs_p": null,
"transcript": "ENST00000706375.1",
"protein_id": "ENSP00000516357.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.*473C>T",
"hgvs_p": null,
"transcript": "ENST00000706377.1",
"protein_id": "ENSP00000516359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.1717C>T",
"hgvs_p": null,
"transcript": "ENST00000706378.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.*439C>T",
"hgvs_p": null,
"transcript": "ENST00000706380.1",
"protein_id": "ENSP00000516361.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.2516C>T",
"hgvs_p": null,
"transcript": "ENST00000706381.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.2516C>T",
"hgvs_p": null,
"transcript": "ENST00000706382.1",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.2014C>T",
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"transcript": "ENST00000706383.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.*650C>T",
"hgvs_p": null,
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"protein_id": "ENSP00000516362.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.*270C>T",
"hgvs_p": null,
"transcript": "ENST00000706385.1",
"protein_id": "ENSP00000516363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1992,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.*439C>T",
"hgvs_p": null,
"transcript": "ENST00000706386.1",
"protein_id": "ENSP00000516364.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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],
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"dbsnp": "rs963172852",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.7434759140014648,
"computational_prediction_selected": "Uncertain_significance",
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"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.518,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
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"PM5",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371717.8",
"gene_symbol": "PMPCA",
"hgnc_id": 18667,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val"
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],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}