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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: 2-32144945-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32144945&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32144945,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014946.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1625A>T",
"hgvs_p": "p.Asp542Val",
"transcript": "NM_014946.4",
"protein_id": "NP_055761.2",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 616,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315285.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014946.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1625A>T",
"hgvs_p": "p.Asp542Val",
"transcript": "ENST00000315285.9",
"protein_id": "ENSP00000320885.3",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 616,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014946.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315285.9"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1622A>T",
"hgvs_p": "p.Asp541Val",
"transcript": "ENST00000621856.2",
"protein_id": "ENSP00000482496.2",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 615,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621856.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1730A>T",
"hgvs_p": "p.Asp577Val",
"transcript": "ENST00000713716.1",
"protein_id": "ENSP00000519019.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 651,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713716.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1622A>T",
"hgvs_p": "p.Asp541Val",
"transcript": "NM_001363823.2",
"protein_id": "NP_001350752.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 615,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363823.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1619A>T",
"hgvs_p": "p.Asp540Val",
"transcript": "ENST00000933132.1",
"protein_id": "ENSP00000603191.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 614,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933132.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1550A>T",
"hgvs_p": "p.Asp517Val",
"transcript": "ENST00000647133.2",
"protein_id": "ENSP00000493742.2",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 591,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647133.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1529A>T",
"hgvs_p": "p.Asp510Val",
"transcript": "NM_199436.2",
"protein_id": "NP_955468.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 584,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199436.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1529A>T",
"hgvs_p": "p.Asp510Val",
"transcript": "ENST00000646571.1",
"protein_id": "ENSP00000495015.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 584,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646571.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1526A>T",
"hgvs_p": "p.Asp509Val",
"transcript": "NM_001363875.2",
"protein_id": "NP_001350804.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 583,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363875.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1526A>T",
"hgvs_p": "p.Asp509Val",
"transcript": "ENST00000642455.1",
"protein_id": "ENSP00000493827.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 583,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642455.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1499A>T",
"hgvs_p": "p.Asp500Val",
"transcript": "ENST00000933133.1",
"protein_id": "ENSP00000603192.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 574,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933133.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1625A>T",
"hgvs_p": "p.Asp542Val",
"transcript": "ENST00000644408.2",
"protein_id": "ENSP00000493748.2",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 571,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644408.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1478A>T",
"hgvs_p": "p.Asp493Val",
"transcript": "ENST00000642281.2",
"protein_id": "ENSP00000496211.2",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 567,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642281.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1451A>T",
"hgvs_p": "p.Asp484Val",
"transcript": "ENST00000933131.1",
"protein_id": "ENSP00000603190.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 558,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933131.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1367A>T",
"hgvs_p": "p.Asp456Val",
"transcript": "ENST00000642999.1",
"protein_id": "ENSP00000496589.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 530,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642999.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "ENST00000644954.1",
"protein_id": "ENSP00000494312.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 498,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644954.1"
},
{
"aa_ref": "D",
"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": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Asp268Val",
"transcript": "ENST00000645730.1",
"protein_id": "ENSP00000496072.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 341,
"cds_start": 803,
"cds_end": null,
"cds_length": 1028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1520+1530A>T",
"hgvs_p": null,
"transcript": "NM_001377959.1",
"protein_id": "NP_001364888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": null,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1520+1530A>T",
"hgvs_p": null,
"transcript": "ENST00000642751.2",
"protein_id": "ENSP00000495478.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": null,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642751.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "c.1445+1530A>T",
"hgvs_p": null,
"transcript": "ENST00000645671.2",
"protein_id": "ENSP00000494601.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645671.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SPAST",
"gene_hgnc_id": 11233,
"hgvs_c": "n.2362A>T",
"hgvs_p": null,
"transcript": "ENST00000645159.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645159.1"
},
{
"aa_ref": null,
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"canonical": false,
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}
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}