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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: 17-44075711-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44075711&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44075711,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138387.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "NM_138387.4",
"protein_id": "NP_612396.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 346,
"cds_start": 709,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269097.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138387.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "ENST00000269097.9",
"protein_id": "ENSP00000269097.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 346,
"cds_start": 709,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138387.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269097.9"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*684C>T",
"hgvs_p": null,
"transcript": "ENST00000588558.6",
"protein_id": "ENSP00000467624.1",
"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": "ENST00000588558.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*684C>T",
"hgvs_p": null,
"transcript": "ENST00000588558.6",
"protein_id": "ENSP00000467624.1",
"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": "ENST00000588558.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Trp",
"transcript": "ENST00000915749.1",
"protein_id": "ENSP00000585808.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 336,
"cds_start": 679,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915749.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Trp",
"transcript": "ENST00000915747.1",
"protein_id": "ENSP00000585806.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 316,
"cds_start": 619,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915747.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000892385.1",
"protein_id": "ENSP00000562444.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 314,
"cds_start": 613,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892385.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "ENST00000696393.1",
"protein_id": "ENSP00000512603.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 281,
"cds_start": 709,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696393.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000915748.1",
"protein_id": "ENSP00000585807.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 280,
"cds_start": 511,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915748.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "ENST00000696390.1",
"protein_id": "ENSP00000512600.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 276,
"cds_start": 499,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696390.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Trp",
"transcript": "ENST00000591696.1",
"protein_id": "ENSP00000468677.1",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 242,
"cds_start": 601,
"cds_end": null,
"cds_length": 731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591696.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_001384165.1",
"protein_id": "NP_001371094.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 364,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384165.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_001384166.1",
"protein_id": "NP_001371095.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 364,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384166.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_001384167.1",
"protein_id": "NP_001371096.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 364,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384167.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_001384168.1",
"protein_id": "NP_001371097.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 364,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384168.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000696383.1",
"protein_id": "ENSP00000512593.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 364,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696383.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "XM_011525474.4",
"protein_id": "XP_011523776.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 231,
"cds_start": 364,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525474.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.*2C>T",
"hgvs_p": null,
"transcript": "NM_001319945.2",
"protein_id": "NP_001306874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": null,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319945.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.*2C>T",
"hgvs_p": null,
"transcript": "ENST00000590253.3",
"protein_id": "ENSP00000465111.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": null,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590253.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.*2C>T",
"hgvs_p": null,
"transcript": "ENST00000696386.1",
"protein_id": "ENSP00000512596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696386.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.677+260C>T",
"hgvs_p": null,
"transcript": "ENST00000696405.1",
"protein_id": "ENSP00000512607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696405.1"
},
{
"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": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*546C>T",
"hgvs_p": null,
"transcript": "ENST00000585361.6",
"protein_id": "ENSP00000466983.1",
"transcript_support_level": 2,
"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": "ENST00000585361.6"
},
{
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}