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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: 15-71826845-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=71826845&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 71826845,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356056.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7382G>T",
"hgvs_p": "p.Arg2461Leu",
"transcript": "NM_006901.4",
"protein_id": "NP_008832.2",
"transcript_support_level": null,
"aa_start": 2461,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7382,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 7924,
"cdna_end": null,
"cdna_length": 12478,
"mane_select": "ENST00000356056.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7382G>T",
"hgvs_p": "p.Arg2461Leu",
"transcript": "ENST00000356056.10",
"protein_id": "ENSP00000348349.5",
"transcript_support_level": 1,
"aa_start": 2461,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7382,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 7924,
"cdna_end": null,
"cdna_length": 12478,
"mane_select": "NM_006901.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.3929G>T",
"hgvs_p": "p.Arg1310Leu",
"transcript": "ENST00000561618.5",
"protein_id": "ENSP00000457945.1",
"transcript_support_level": 1,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.*187G>T",
"hgvs_p": null,
"transcript": "ENST00000564571.5",
"protein_id": "ENSP00000456192.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2396,
"cds_start": -4,
"cds_end": null,
"cds_length": 7191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.1124G>T",
"hgvs_p": "p.Arg375Leu",
"transcript": "ENST00000568042.5",
"protein_id": "ENSP00000457407.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 462,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7652G>T",
"hgvs_p": "p.Arg2551Leu",
"transcript": "XM_011521613.4",
"protein_id": "XP_011519915.1",
"transcript_support_level": null,
"aa_start": 2551,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7652,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 8194,
"cdna_end": null,
"cdna_length": 12748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7652G>T",
"hgvs_p": "p.Arg2551Leu",
"transcript": "XM_011521614.4",
"protein_id": "XP_011519916.1",
"transcript_support_level": null,
"aa_start": 2551,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7652,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 8239,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7652G>T",
"hgvs_p": "p.Arg2551Leu",
"transcript": "XM_011521615.4",
"protein_id": "XP_011519917.1",
"transcript_support_level": null,
"aa_start": 2551,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7652,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 7997,
"cdna_end": null,
"cdna_length": 12551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7652G>T",
"hgvs_p": "p.Arg2551Leu",
"transcript": "XM_011521616.4",
"protein_id": "XP_011519918.1",
"transcript_support_level": null,
"aa_start": 2551,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7652,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 7791,
"cdna_end": null,
"cdna_length": 12345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7649G>T",
"hgvs_p": "p.Arg2550Leu",
"transcript": "XM_011521617.4",
"protein_id": "XP_011519919.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7649,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 8191,
"cdna_end": null,
"cdna_length": 12745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7649G>T",
"hgvs_p": "p.Arg2550Leu",
"transcript": "XM_047432547.1",
"protein_id": "XP_047288503.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7649,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 7788,
"cdna_end": null,
"cdna_length": 12342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7649G>T",
"hgvs_p": "p.Arg2550Leu",
"transcript": "XM_047432548.1",
"protein_id": "XP_047288504.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7649,
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"cds_length": 7914,
"cdna_start": 8236,
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"cdna_length": 12790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7598G>T",
"hgvs_p": "p.Arg2533Leu",
"transcript": "XM_011521618.4",
"protein_id": "XP_011519920.1",
"transcript_support_level": null,
"aa_start": 2533,
"aa_end": null,
"aa_length": 2620,
"cds_start": 7598,
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"cds_length": 7863,
"cdna_start": 8140,
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"cdna_length": 12694,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_006720539.4",
"protein_id": "XP_006720602.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_011521619.4",
"protein_id": "XP_011519921.1",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
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"cds_start": 7595,
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"cdna_start": 8137,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_047432549.1",
"protein_id": "XP_047288505.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_047432550.1",
"protein_id": "XP_047288506.1",
"transcript_support_level": null,
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"cdna_start": 8182,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_047432551.1",
"protein_id": "XP_047288507.1",
"transcript_support_level": null,
"aa_start": 2532,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 44,
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"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_047432552.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 43,
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"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7595G>T",
"hgvs_p": "p.Arg2532Leu",
"transcript": "XM_047432553.1",
"protein_id": "XP_047288509.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7592G>T",
"hgvs_p": "p.Arg2531Leu",
"transcript": "XM_011521620.4",
"protein_id": "XP_011519922.1",
"transcript_support_level": null,
"aa_start": 2531,
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"cds_start": 7592,
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"cdna_start": 8134,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7592G>T",
"hgvs_p": "p.Arg2531Leu",
"transcript": "XM_047432554.1",
"protein_id": "XP_047288510.1",
"transcript_support_level": null,
"aa_start": 2531,
"aa_end": null,
"aa_length": 2618,
"cds_start": 7592,
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"cdna_start": 7731,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
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}
],
"message": null
}