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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: 12-56471554-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56471554&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56471554,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013267.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Leu581Arg",
"transcript": "NM_013267.4",
"protein_id": "NP_037399.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 602,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311966.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013267.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1742T>G",
"hgvs_p": "p.Leu581Arg",
"transcript": "ENST00000311966.9",
"protein_id": "ENSP00000310447.4",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 602,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013267.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311966.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*1977A>C",
"hgvs_p": null,
"transcript": "NM_207344.4",
"protein_id": "NP_997227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207344.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRYD4",
"gene_hgnc_id": 27468,
"hgvs_c": "c.*1977A>C",
"hgvs_p": null,
"transcript": "ENST00000338146.7",
"protein_id": "ENSP00000338034.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207344.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338146.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.790T>G",
"hgvs_p": null,
"transcript": "ENST00000390288.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000390288.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*1078T>G",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000424141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*831T>G",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000486433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*1078T>G",
"hgvs_p": null,
"transcript": "ENST00000424141.6",
"protein_id": "ENSP00000416282.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000424141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*831T>G",
"hgvs_p": null,
"transcript": "ENST00000486433.5",
"protein_id": "ENSP00000420328.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000486433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285528",
"gene_hgnc_id": null,
"hgvs_c": "n.182+16383T>G",
"hgvs_p": null,
"transcript": "ENST00000648304.1",
"protein_id": "ENSP00000497190.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648304.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1883T>G",
"hgvs_p": "p.Leu628Arg",
"transcript": "ENST00000873347.1",
"protein_id": "ENSP00000543406.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 649,
"cds_start": 1883,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873347.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1829T>G",
"hgvs_p": "p.Leu610Arg",
"transcript": "ENST00000873342.1",
"protein_id": "ENSP00000543401.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 631,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873342.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1772T>G",
"hgvs_p": "p.Leu591Arg",
"transcript": "ENST00000873336.1",
"protein_id": "ENSP00000543395.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 612,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873336.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1766T>G",
"hgvs_p": "p.Leu589Arg",
"transcript": "ENST00000873339.1",
"protein_id": "ENSP00000543398.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 610,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873339.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1763T>G",
"hgvs_p": "p.Leu588Arg",
"transcript": "ENST00000873348.1",
"protein_id": "ENSP00000543407.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 609,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873348.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1739T>G",
"hgvs_p": "p.Leu580Arg",
"transcript": "ENST00000873343.1",
"protein_id": "ENSP00000543402.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 601,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873343.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1730T>G",
"hgvs_p": "p.Leu577Arg",
"transcript": "ENST00000873346.1",
"protein_id": "ENSP00000543405.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 598,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873346.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1709T>G",
"hgvs_p": "p.Leu570Arg",
"transcript": "ENST00000873337.1",
"protein_id": "ENSP00000543396.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 591,
"cds_start": 1709,
"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": "ENST00000873337.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1691T>G",
"hgvs_p": "p.Leu564Arg",
"transcript": "ENST00000873341.1",
"protein_id": "ENSP00000543400.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 585,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873341.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1664T>G",
"hgvs_p": "p.Leu555Arg",
"transcript": "ENST00000873349.1",
"protein_id": "ENSP00000543408.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 576,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873349.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1526T>G",
"hgvs_p": "p.Leu509Arg",
"transcript": "ENST00000873351.1",
"protein_id": "ENSP00000543410.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 530,
"cds_start": 1526,
"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": "ENST00000873351.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1520T>G",
"hgvs_p": "p.Leu507Arg",
"transcript": "ENST00000873344.1",
"protein_id": "ENSP00000543403.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 528,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}