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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: 12-56474711-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56474711&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56474711,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013267.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1057G>C",
"hgvs_p": "p.Val353Leu",
"transcript": "NM_013267.4",
"protein_id": "NP_037399.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 602,
"cds_start": 1057,
"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": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1057G>C",
"hgvs_p": "p.Val353Leu",
"transcript": "ENST00000311966.9",
"protein_id": "ENSP00000310447.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 602,
"cds_start": 1057,
"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.*5134C>G",
"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.*5134C>G",
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*393G>C",
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*146G>C",
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*393G>C",
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "n.*146G>C",
"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+13226G>C",
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1198G>C",
"hgvs_p": "p.Val400Leu",
"transcript": "ENST00000873347.1",
"protein_id": "ENSP00000543406.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 649,
"cds_start": 1198,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1144G>C",
"hgvs_p": "p.Val382Leu",
"transcript": "ENST00000873342.1",
"protein_id": "ENSP00000543401.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 631,
"cds_start": 1144,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1087G>C",
"hgvs_p": "p.Val363Leu",
"transcript": "ENST00000873336.1",
"protein_id": "ENSP00000543395.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 612,
"cds_start": 1087,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1081G>C",
"hgvs_p": "p.Val361Leu",
"transcript": "ENST00000873339.1",
"protein_id": "ENSP00000543398.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 610,
"cds_start": 1081,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1057G>C",
"hgvs_p": "p.Val353Leu",
"transcript": "ENST00000873348.1",
"protein_id": "ENSP00000543407.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 609,
"cds_start": 1057,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1057G>C",
"hgvs_p": "p.Val353Leu",
"transcript": "ENST00000873343.1",
"protein_id": "ENSP00000543402.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 601,
"cds_start": 1057,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1045G>C",
"hgvs_p": "p.Val349Leu",
"transcript": "ENST00000873346.1",
"protein_id": "ENSP00000543405.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 598,
"cds_start": 1045,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Val342Leu",
"transcript": "ENST00000873337.1",
"protein_id": "ENSP00000543396.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 591,
"cds_start": 1024,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.1006G>C",
"hgvs_p": "p.Val336Leu",
"transcript": "ENST00000873341.1",
"protein_id": "ENSP00000543400.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 585,
"cds_start": 1006,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Val327Leu",
"transcript": "ENST00000873349.1",
"protein_id": "ENSP00000543408.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 576,
"cds_start": 979,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Val281Leu",
"transcript": "ENST00000873351.1",
"protein_id": "ENSP00000543410.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 530,
"cds_start": 841,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "ENST00000873344.1",
"protein_id": "ENSP00000543403.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 528,
"cds_start": 835,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873344.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLS2",
"gene_hgnc_id": 29570,
"hgvs_c": "c.802G>C",
"hgvs_p": "p.Val268Leu",
"transcript": "ENST00000873353.1",
"protein_id": "ENSP00000543412.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 517,
"cds_start": 802,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}