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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: 11-111742589-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111742589&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111742589,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181699.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "NM_002716.5",
"protein_id": "NP_002707.3",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 601,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000527614.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002716.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "ENST00000527614.6",
"protein_id": "ENSP00000437193.1",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 601,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002716.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527614.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "ENST00000311129.9",
"protein_id": "ENSP00000311344.5",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 667,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311129.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "NM_181699.3",
"protein_id": "NP_859050.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 667,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181699.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Gln480Arg",
"transcript": "NM_181700.2",
"protein_id": "NP_859051.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 603,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181700.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Gln480Arg",
"transcript": "ENST00000426998.6",
"protein_id": "ENSP00000410671.2",
"transcript_support_level": 2,
"aa_start": 480,
"aa_end": null,
"aa_length": 603,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426998.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Gln525Arg",
"transcript": "ENST00000925452.1",
"protein_id": "ENSP00000595511.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 582,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925452.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Gln507Arg",
"transcript": "ENST00000876846.1",
"protein_id": "ENSP00000546905.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 564,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876846.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1496A>G",
"hgvs_p": "p.Gln499Arg",
"transcript": "NM_001177562.2",
"protein_id": "NP_001171033.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 556,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177562.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1496A>G",
"hgvs_p": "p.Gln499Arg",
"transcript": "ENST00000341980.10",
"protein_id": "ENSP00000343317.6",
"transcript_support_level": 2,
"aa_start": 499,
"aa_end": null,
"aa_length": 556,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341980.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1475A>G",
"hgvs_p": "p.Gln492Arg",
"transcript": "ENST00000876848.1",
"protein_id": "ENSP00000546907.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 549,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876848.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Gln480Arg",
"transcript": "ENST00000876847.1",
"protein_id": "ENSP00000546906.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 537,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876847.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Gln480Arg",
"transcript": "ENST00000925456.1",
"protein_id": "ENSP00000595515.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 537,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925456.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1328A>G",
"hgvs_p": "p.Gln443Arg",
"transcript": "ENST00000925455.1",
"protein_id": "ENSP00000595514.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 500,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925455.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1322A>G",
"hgvs_p": "p.Gln441Arg",
"transcript": "ENST00000876845.1",
"protein_id": "ENSP00000546904.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 498,
"cds_start": 1322,
"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": "ENST00000876845.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Gln435Arg",
"transcript": "ENST00000925453.1",
"protein_id": "ENSP00000595512.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 492,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925453.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Gln430Arg",
"transcript": "ENST00000925454.1",
"protein_id": "ENSP00000595513.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 487,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925454.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1250A>G",
"hgvs_p": "p.Gln417Arg",
"transcript": "NM_001177563.2",
"protein_id": "NP_001171034.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 474,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177563.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1250A>G",
"hgvs_p": "p.Gln417Arg",
"transcript": "ENST00000393055.6",
"protein_id": "ENSP00000376775.2",
"transcript_support_level": 2,
"aa_start": 417,
"aa_end": null,
"aa_length": 474,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393055.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.Gln385Arg",
"transcript": "ENST00000876849.1",
"protein_id": "ENSP00000546908.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 442,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876849.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Gln172Arg",
"transcript": "ENST00000531890.1",
"protein_id": "ENSP00000433598.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 222,
"cds_start": 515,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531890.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1B",
"gene_hgnc_id": 9303,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "XM_047427196.1",
"protein_id": "XP_047283152.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}