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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: X-134852859-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134852859&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 134852859,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001388447.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.649T>G",
"hgvs_p": "p.Ser217Ala",
"transcript": "NM_001388447.1",
"protein_id": "NP_001375376.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 270,
"cds_start": 649,
"cds_end": null,
"cds_length": 813,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": "ENST00000645433.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.649T>G",
"hgvs_p": "p.Ser217Ala",
"transcript": "ENST00000645433.2",
"protein_id": "ENSP00000496338.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 270,
"cds_start": 649,
"cds_end": null,
"cds_length": 813,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": "NM_001388447.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.405T>G",
"hgvs_p": "p.Phe135Leu",
"transcript": "ENST00000370784.8",
"protein_id": "ENSP00000359820.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 195,
"cds_start": 405,
"cds_end": null,
"cds_length": 588,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.439-1232T>G",
"hgvs_p": null,
"transcript": "ENST00000370785.4",
"protein_id": "ENSP00000359821.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.646T>G",
"hgvs_p": "p.Ser216Ala",
"transcript": "NM_001388448.1",
"protein_id": "NP_001375377.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 269,
"cds_start": 646,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.405T>G",
"hgvs_p": "p.Phe135Leu",
"transcript": "NM_001170779.3",
"protein_id": "NP_001164250.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 195,
"cds_start": 405,
"cds_end": null,
"cds_length": 588,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.405T>G",
"hgvs_p": "p.Phe135Leu",
"transcript": "NM_001388440.1",
"protein_id": "NP_001375369.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 195,
"cds_start": 405,
"cds_end": null,
"cds_length": 588,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.757T>G",
"hgvs_p": "p.Ser253Ala",
"transcript": "XM_005262382.2",
"protein_id": "XP_005262439.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 306,
"cds_start": 757,
"cds_end": null,
"cds_length": 921,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.754T>G",
"hgvs_p": "p.Ser252Ala",
"transcript": "XM_011531295.2",
"protein_id": "XP_011529597.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 305,
"cds_start": 754,
"cds_end": null,
"cds_length": 918,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.606T>G",
"hgvs_p": "p.Phe202Leu",
"transcript": "XM_047441877.1",
"protein_id": "XP_047297833.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 262,
"cds_start": 606,
"cds_end": null,
"cds_length": 789,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.513T>G",
"hgvs_p": "p.Phe171Leu",
"transcript": "XM_005262383.3",
"protein_id": "XP_005262440.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 231,
"cds_start": 513,
"cds_end": null,
"cds_length": 696,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.394T>G",
"hgvs_p": "p.Ser132Ala",
"transcript": "XM_011531299.2",
"protein_id": "XP_011529601.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 185,
"cds_start": 394,
"cds_end": null,
"cds_length": 558,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.394T>G",
"hgvs_p": "p.Ser132Ala",
"transcript": "XM_011531301.3",
"protein_id": "XP_011529603.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 185,
"cds_start": 394,
"cds_end": null,
"cds_length": 558,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.394T>G",
"hgvs_p": "p.Ser132Ala",
"transcript": "XM_011531302.3",
"protein_id": "XP_011529604.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 185,
"cds_start": 394,
"cds_end": null,
"cds_length": 558,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1206,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.619T>G",
"hgvs_p": null,
"transcript": "ENST00000460216.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 749,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.*56T>G",
"hgvs_p": null,
"transcript": "ENST00000463842.2",
"protein_id": "ENSP00000496521.1",
"transcript_support_level": 3,
"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": 1112,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.751T>G",
"hgvs_p": null,
"transcript": "ENST00000470657.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 783,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.*1351T>G",
"hgvs_p": null,
"transcript": "ENST00000644752.1",
"protein_id": "ENSP00000496039.1",
"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": 2511,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.*1326T>G",
"hgvs_p": null,
"transcript": "ENST00000645176.1",
"protein_id": "ENSP00000496258.1",
"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": 2392,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.1831T>G",
"hgvs_p": null,
"transcript": "ENST00000645256.1",
"protein_id": null,
"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": 2340,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.771T>G",
"hgvs_p": null,
"transcript": "NR_158603.2",
"protein_id": null,
"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": 1550,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.1690T>G",
"hgvs_p": null,
"transcript": "NR_158606.2",
"protein_id": null,
"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": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "n.*56T>G",
"hgvs_p": null,
"transcript": "ENST00000463842.2",
"protein_id": "ENSP00000496521.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"phenotype_combined": "not specified",
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}
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}