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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: 7-74051978-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74051978&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74051978,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001278939.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_000501.4",
"protein_id": "NP_000492.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 724,
"cds_start": 944,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000252034.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000501.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000252034.12",
"protein_id": "ENSP00000252034.7",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 724,
"cds_start": 944,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_000501.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252034.12"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000380562.8",
"protein_id": "ENSP00000369936.4",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 730,
"cds_start": 944,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380562.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Lys305Arg",
"transcript": "ENST00000458204.5",
"protein_id": "ENSP00000403162.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 714,
"cds_start": 914,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458204.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Lys320Arg",
"transcript": "ENST00000357036.9",
"protein_id": "ENSP00000349540.5",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 711,
"cds_start": 959,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357036.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000380576.9",
"protein_id": "ENSP00000369950.5",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 705,
"cds_start": 944,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380576.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Lys305Arg",
"transcript": "ENST00000380575.8",
"protein_id": "ENSP00000369949.4",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 677,
"cds_start": 914,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380575.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Lys301Arg",
"transcript": "ENST00000380584.8",
"protein_id": "ENSP00000369958.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 658,
"cds_start": 902,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380584.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001278939.2",
"protein_id": "NP_001265868.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 786,
"cds_start": 944,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278939.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000692049.1",
"protein_id": "ENSP00000510104.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 786,
"cds_start": 944,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692049.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000320399.10",
"protein_id": "ENSP00000313565.6",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 757,
"cds_start": 944,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320399.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000953888.1",
"protein_id": "ENSP00000623947.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 750,
"cds_start": 944,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953888.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001278915.2",
"protein_id": "NP_001265844.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 730,
"cds_start": 944,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278915.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Lys320Arg",
"transcript": "ENST00000869821.1",
"protein_id": "ENSP00000539880.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 729,
"cds_start": 959,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869821.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Lys301Arg",
"transcript": "ENST00000953850.1",
"protein_id": "ENSP00000623909.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 725,
"cds_start": 902,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953850.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Lys333Arg",
"transcript": "ENST00000869853.1",
"protein_id": "ENSP00000539912.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 724,
"cds_start": 998,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869853.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Lys333Arg",
"transcript": "ENST00000869840.1",
"protein_id": "ENSP00000539899.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 723,
"cds_start": 998,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869840.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000869804.1",
"protein_id": "ENSP00000539863.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 722,
"cds_start": 944,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869804.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000953875.1",
"protein_id": "ENSP00000623934.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 722,
"cds_start": 944,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953875.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000953869.1",
"protein_id": "ENSP00000623928.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 720,
"cds_start": 944,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953869.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000869842.1",
"protein_id": "ENSP00000539901.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 716,
"cds_start": 944,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869842.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.917A>G",
"hgvs_p": "p.Lys306Arg",
"transcript": "ENST00000953881.1",
"protein_id": "ENSP00000623940.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 715,
"cds_start": 917,
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}