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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: 9-32984733-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=32984733&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 32984733,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000379817.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "NM_001195248.2",
"protein_id": "NP_001182177.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 342,
"cds_start": 668,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "ENST00000379817.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000379817.7",
"protein_id": "ENSP00000369145.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 342,
"cds_start": 668,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "NM_001195248.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000379819.6",
"protein_id": "ENSP00000369147.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 342,
"cds_start": 668,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000463596.6",
"protein_id": "ENSP00000419846.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 342,
"cds_start": 668,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000468275.6",
"protein_id": "ENSP00000420263.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 292,
"cds_start": 668,
"cds_end": null,
"cds_length": 879,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Leu169Pro",
"transcript": "ENST00000309615.8",
"protein_id": "ENSP00000311547.4",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 288,
"cds_start": 506,
"cds_end": null,
"cds_length": 867,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Leu169Pro",
"transcript": "ENST00000436040.7",
"protein_id": "ENSP00000400806.4",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 288,
"cds_start": 506,
"cds_end": null,
"cds_length": 867,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Leu169Pro",
"transcript": "ENST00000476858.6",
"protein_id": "ENSP00000419042.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 288,
"cds_start": 506,
"cds_end": null,
"cds_length": 867,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000397172.8",
"protein_id": "ENSP00000380357.4",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 270,
"cds_start": 452,
"cds_end": null,
"cds_length": 813,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1740,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*398T>C",
"hgvs_p": null,
"transcript": "ENST00000464632.6",
"protein_id": "ENSP00000418069.2",
"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": 679,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*398T>C",
"hgvs_p": null,
"transcript": "ENST00000465003.6",
"protein_id": "ENSP00000419430.2",
"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": 1914,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*513T>C",
"hgvs_p": null,
"transcript": "ENST00000467331.6",
"protein_id": "ENSP00000418733.1",
"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": 1938,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*462T>C",
"hgvs_p": null,
"transcript": "ENST00000472896.6",
"protein_id": "ENSP00000417804.2",
"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": 1962,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*295T>C",
"hgvs_p": null,
"transcript": "ENST00000478279.6",
"protein_id": "ENSP00000419597.2",
"transcript_support_level": 1,
"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": 684,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*513T>C",
"hgvs_p": null,
"transcript": "ENST00000479656.6",
"protein_id": "ENSP00000420071.1",
"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": 2057,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*295T>C",
"hgvs_p": null,
"transcript": "ENST00000483148.6",
"protein_id": "ENSP00000419723.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*389T>C",
"hgvs_p": null,
"transcript": "ENST00000485479.6",
"protein_id": "ENSP00000418144.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1814,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*513T>C",
"hgvs_p": null,
"transcript": "ENST00000494649.5",
"protein_id": "ENSP00000417634.1",
"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": 2099,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*398T>C",
"hgvs_p": null,
"transcript": "ENST00000464632.6",
"protein_id": "ENSP00000418069.2",
"transcript_support_level": 1,
"aa_start": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*398T>C",
"hgvs_p": null,
"transcript": "ENST00000465003.6",
"protein_id": "ENSP00000419430.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*513T>C",
"hgvs_p": null,
"transcript": "ENST00000467331.6",
"protein_id": "ENSP00000418733.1",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*462T>C",
"hgvs_p": null,
"transcript": "ENST00000472896.6",
"protein_id": "ENSP00000417804.2",
"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": 1962,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*295T>C",
"hgvs_p": null,
"transcript": "ENST00000478279.6",
"protein_id": "ENSP00000419597.2",
"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,
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],
"gene_symbol": "APTX",
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"dbsnp": "rs267606665",
"frequency_reference_population": 6.84046e-7,
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"computational_score_selected": 0.9316888451576233,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.974,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
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"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
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"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000379817.7",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Leu223Pro"
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],
"clinvar_disease": " early-onset, with oculomotor apraxia and hypoalbuminemia,Ataxia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}