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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: 12-21304500-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21304500&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21304500,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000683939.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_001386879.1",
"protein_id": "NP_001373808.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 7114,
"mane_select": "ENST00000683939.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "ENST00000683939.1",
"protein_id": "ENSP00000508235.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 7114,
"mane_select": "NM_001386879.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "ENST00000307378.10",
"protein_id": "ENSP00000305974.6",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 7682,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "n.*95A>T",
"hgvs_p": null,
"transcript": "ENST00000544020.5",
"protein_id": "ENSP00000440154.1",
"transcript_support_level": 1,
"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": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "n.*95A>T",
"hgvs_p": null,
"transcript": "ENST00000544020.5",
"protein_id": "ENSP00000440154.1",
"transcript_support_level": 1,
"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": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_001386878.1",
"protein_id": "NP_001373807.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_001386880.1",
"protein_id": "NP_001373809.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_001386881.1",
"protein_id": "NP_001373810.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 7309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_001386882.2",
"protein_id": "NP_001373811.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 7258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_021094.4",
"protein_id": "NP_066580.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_134431.5",
"protein_id": "NP_602307.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 670,
"cds_start": 516,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 7750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.510A>T",
"hgvs_p": "p.Glu170Asp",
"transcript": "NM_001386886.1",
"protein_id": "NP_001373815.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 668,
"cds_start": 510,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.510A>T",
"hgvs_p": "p.Glu170Asp",
"transcript": "NM_001386926.1",
"protein_id": "NP_001373855.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 668,
"cds_start": 510,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 7387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.510A>T",
"hgvs_p": "p.Glu170Asp",
"transcript": "NM_001386947.1",
"protein_id": "NP_001373876.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 668,
"cds_start": 510,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.510A>T",
"hgvs_p": "p.Glu170Asp",
"transcript": "NM_001386949.1",
"protein_id": "NP_001373878.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 668,
"cds_start": 510,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 7581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.510A>T",
"hgvs_p": "p.Glu170Asp",
"transcript": "NM_001386960.1",
"protein_id": "NP_001373889.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 668,
"cds_start": 510,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 7275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "NM_001386948.1",
"protein_id": "NP_001373877.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 650,
"cds_start": 456,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 7067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "NM_001386952.1",
"protein_id": "NP_001373881.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 650,
"cds_start": 456,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.516A>T",
"hgvs_p": "p.Glu172Asp",
"transcript": "NM_001386887.1",
"protein_id": "NP_001373816.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 617,
"cds_start": 516,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "NM_001386958.1",
"protein_id": "NP_001373887.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 597,
"cds_start": 456,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "NM_001386951.1",
"protein_id": "NP_001373880.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 589,
"cds_start": 456,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "NM_001386946.1",
"protein_id": "NP_001373875.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 584,
"cds_start": 456,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.255A>T",
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.243,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}