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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: 7-5977705-CCAGT-TCAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5977705&ref=CCAGT&alt=TCAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5977705,
"ref": "CCAGT",
"alt": "TCAGC",
"effect": "stop_gained",
"transcript": "ENST00000265849.12",
"consequences": [
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2324_2328delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp775*",
"transcript": "NM_000535.7",
"protein_id": "NP_000526.2",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 862,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "ENST00000265849.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2324_2328delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp775*",
"transcript": "ENST00000265849.12",
"protein_id": "ENSP00000265849.7",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 862,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "NM_000535.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1121_1125delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp374*",
"transcript": "ENST00000382321.5",
"protein_id": "ENSP00000371758.4",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 461,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.1684_1688delACTGGinsGCTGA",
"hgvs_p": null,
"transcript": "ENST00000406569.8",
"protein_id": "ENSP00000514464.1",
"transcript_support_level": 1,
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2510_2514delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp837*",
"transcript": "NM_001406866.1",
"protein_id": "NP_001393795.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 924,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2510_2514delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp837*",
"transcript": "ENST00000699839.1",
"protein_id": "ENSP00000514637.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 924,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2357_2361delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp786*",
"transcript": "NM_001322014.2",
"protein_id": "NP_001308943.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 873,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2357_2361delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp786*",
"transcript": "ENST00000699766.1",
"protein_id": "ENSP00000514574.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 873,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2348_2352delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp783*",
"transcript": "NM_001406868.1",
"protein_id": "NP_001393797.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 870,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2321_2325delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp774*",
"transcript": "ENST00000699840.2",
"protein_id": "ENSP00000514638.2",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 861,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2216_2220delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp739*",
"transcript": "NM_001406869.1",
"protein_id": "NP_001393798.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 826,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2216_2220delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp739*",
"transcript": "ENST00000699930.2",
"protein_id": "ENSP00000514695.2",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 826,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2201_2205delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp734*",
"transcript": "NM_001406870.1",
"protein_id": "NP_001393799.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 821,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2180_2184delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp727*",
"transcript": "NM_001406871.1",
"protein_id": "NP_001393800.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 814,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2180_2184delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp727*",
"transcript": "ENST00000699768.1",
"protein_id": "ENSP00000514576.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 814,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2168_2172delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp723*",
"transcript": "NM_001322006.2",
"protein_id": "NP_001308935.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 810,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2168_2172delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp723*",
"transcript": "ENST00000699752.1",
"protein_id": "ENSP00000514561.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 810,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2156_2160delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp719*",
"transcript": "NM_001406872.1",
"protein_id": "NP_001393801.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 806,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2156_2160delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp719*",
"transcript": "NM_001406874.1",
"protein_id": "NP_001393803.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 806,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2156_2160delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp719*",
"transcript": "ENST00000699827.1",
"protein_id": "ENSP00000514628.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 806,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2126_2130delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp709*",
"transcript": "NM_001406873.1",
"protein_id": "NP_001393802.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 796,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NW",
"aa_alt": "S*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2126_2130delACTGGinsGCTGA",
"hgvs_p": "p.AsnTrp709*",
"transcript": "ENST00000699754.1",
"protein_id": "ENSP00000514563.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 796,
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}
],
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}