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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: 17-39724749-G-GGGCTCCCCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39724749&ref=G&alt=GGGCTCCCCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39724749,
"ref": "G",
"alt": "GGGCTCCCCA",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000269571.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2332_2340dupGGCTCCCCA",
"hgvs_p": "p.Gly778_Pro780dup",
"transcript": "NM_004448.4",
"protein_id": "NP_004439.2",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "ENST00000269571.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2332_2340dupGGCTCCCCA",
"hgvs_p": "p.Gly778_Pro780dup",
"transcript": "ENST00000269571.10",
"protein_id": "ENSP00000269571.4",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "NM_004448.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2332_2340dupGGCTCCCCA",
"hgvs_p": "p.Gly778_Pro780dup",
"transcript": "ENST00000584450.5",
"protein_id": "ENSP00000463714.1",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*2122_*2130dupGGCTCCCCA",
"hgvs_p": null,
"transcript": "ENST00000578373.5",
"protein_id": "ENSP00000463427.1",
"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": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*2122_*2130dupGGCTCCCCA",
"hgvs_p": null,
"transcript": "ENST00000578373.5",
"protein_id": "ENSP00000463427.1",
"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": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2449_2457dupGGCTCCCCA",
"hgvs_p": "p.Gly817_Pro819dup",
"transcript": "NM_001382784.1",
"protein_id": "NP_001369713.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2458,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2434_2442dupGGCTCCCCA",
"hgvs_p": "p.Gly812_Pro814dup",
"transcript": "NM_001382785.1",
"protein_id": "NP_001369714.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1289,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2413_2421dupGGCTCCCCA",
"hgvs_p": "p.Gly805_Pro807dup",
"transcript": "NM_001382786.1",
"protein_id": "NP_001369715.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1282,
"cds_start": 2422,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2407_2415dupGGCTCCCCA",
"hgvs_p": "p.Gly803_Pro805dup",
"transcript": "NM_001382787.1",
"protein_id": "NP_001369716.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1280,
"cds_start": 2416,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2362_2370dupGGCTCCCCA",
"hgvs_p": "p.Gly788_Pro790dup",
"transcript": "NM_001382788.1",
"protein_id": "NP_001369717.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2371,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2353_2361dupGGCTCCCCA",
"hgvs_p": "p.Gly785_Pro787dup",
"transcript": "NM_001382789.1",
"protein_id": "NP_001369718.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2362,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2329_2337dupGGCTCCCCA",
"hgvs_p": "p.Gly777_Pro779dup",
"transcript": "NM_001382790.1",
"protein_id": "NP_001369719.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2323_2331dupGGCTCCCCA",
"hgvs_p": "p.Gly775_Pro777dup",
"transcript": "NM_001382791.1",
"protein_id": "NP_001369720.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1252,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2296_2304dupGGCTCCCCA",
"hgvs_p": "p.Gly766_Pro768dup",
"transcript": "NM_001382792.1",
"protein_id": "NP_001369721.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2305,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2290_2298dupGGCTCCCCA",
"hgvs_p": "p.Gly764_Pro766dup",
"transcript": "NM_001382793.1",
"protein_id": "NP_001369722.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2290_2298dupGGCTCCCCA",
"hgvs_p": "p.Gly764_Pro766dup",
"transcript": "NM_001382794.1",
"protein_id": "NP_001369723.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2287_2295dupGGCTCCCCA",
"hgvs_p": "p.Gly763_Pro765dup",
"transcript": "NM_001289936.2",
"protein_id": "NP_001276865.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2287_2295dupGGCTCCCCA",
"hgvs_p": "p.Gly763_Pro765dup",
"transcript": "ENST00000541774.5",
"protein_id": "ENSP00000446466.1",
"transcript_support_level": 5,
"aa_start": 766,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2284_2292dupGGCTCCCCA",
"hgvs_p": "p.Gly762_Pro764dup",
"transcript": "NM_001382795.1",
"protein_id": "NP_001369724.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2293,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2332_2340dupGGCTCCCCA",
"hgvs_p": "p.Gly778_Pro780dup",
"transcript": "NM_001382796.1",
"protein_id": "NP_001369725.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2242_2250dupGGCTCCCCA",
"hgvs_p": "p.Gly748_Pro750dup",
"transcript": "NM_001005862.3",
"protein_id": "NP_001005862.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2251,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "GSPY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.2242_2250dupGGCTCCCCA",
"hgvs_p": "p.Gly748_Pro750dup",
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}