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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: 2-32087560-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32087560&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32087560,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000315285.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "NM_014946.4",
"protein_id": "NP_055761.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 616,
"cds_start": 484,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": "ENST00000315285.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000315285.9",
"protein_id": "ENSP00000320885.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 616,
"cds_start": 484,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": "NM_014946.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Val161Leu",
"transcript": "ENST00000621856.2",
"protein_id": "ENSP00000482496.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 615,
"cds_start": 481,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000713716.1",
"protein_id": "ENSP00000519019.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 651,
"cds_start": 484,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Val161Leu",
"transcript": "NM_001363823.2",
"protein_id": "NP_001350752.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 615,
"cds_start": 481,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000647133.2",
"protein_id": "ENSP00000493742.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 591,
"cds_start": 484,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "NM_199436.2",
"protein_id": "NP_955468.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 584,
"cds_start": 484,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000646571.1",
"protein_id": "ENSP00000495015.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 584,
"cds_start": 484,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Val161Leu",
"transcript": "NM_001363875.2",
"protein_id": "NP_001350804.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 583,
"cds_start": 481,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Val161Leu",
"transcript": "ENST00000642455.1",
"protein_id": "ENSP00000493827.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 583,
"cds_start": 481,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000644408.2",
"protein_id": "ENSP00000493748.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 571,
"cds_start": 484,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000642281.2",
"protein_id": "ENSP00000496211.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 567,
"cds_start": 484,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.226G>C",
"hgvs_p": "p.Val76Leu",
"transcript": "ENST00000642999.1",
"protein_id": "ENSP00000496589.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 530,
"cds_start": 226,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "NM_001377959.1",
"protein_id": "NP_001364888.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 519,
"cds_start": 484,
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"cdna_start": 760,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"transcript": "ENST00000642751.2",
"protein_id": "ENSP00000495478.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 519,
"cds_start": 484,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.226G>C",
"hgvs_p": "p.Val76Leu",
"transcript": "ENST00000644954.1",
"protein_id": "ENSP00000494312.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
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"cdna_start": 346,
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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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.484G>C",
"hgvs_p": null,
"transcript": "ENST00000643327.2",
"protein_id": "ENSP00000494170.2",
"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": 1458,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.*173G>C",
"hgvs_p": null,
"transcript": "ENST00000645400.2",
"protein_id": "ENSP00000496306.2",
"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": 912,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.484G>C",
"hgvs_p": null,
"transcript": "ENST00000646082.2",
"protein_id": "ENSP00000496334.2",
"transcript_support_level": null,
"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": 1802,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.181G>C",
"hgvs_p": null,
"transcript": "ENST00000647007.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1767,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.*144G>C",
"hgvs_p": null,
"transcript": "ENST00000704289.1",
"protein_id": "ENSP00000515816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2350,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.484G>C",
"hgvs_p": null,
"transcript": "ENST00000713714.1",
"protein_id": "ENSP00000519017.1",
"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": 5252,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.484G>C",
"hgvs_p": null,
"transcript": "ENST00000713715.1",
"protein_id": "ENSP00000519018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP2",
"BP4"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD,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
}