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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: 5-154794157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=154794157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 154794157,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033551.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Thr376Met",
"transcript": "NM_033551.3",
"protein_id": "NP_291029.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1127,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518297.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033551.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Thr376Met",
"transcript": "ENST00000518297.6",
"protein_id": "ENSP00000428589.2",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 1096,
"cds_start": 1127,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033551.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518297.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Met",
"transcript": "ENST00000336314.9",
"protein_id": "ENSP00000336721.4",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 1019,
"cds_start": 896,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336314.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Thr376Met",
"transcript": "ENST00000913421.1",
"protein_id": "ENSP00000583480.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1095,
"cds_start": 1127,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913421.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Thr376Met",
"transcript": "ENST00000913419.1",
"protein_id": "ENSP00000583478.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1127,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913419.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "ENST00000955841.1",
"protein_id": "ENSP00000625900.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1037,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955841.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1028C>T",
"hgvs_p": "p.Thr343Met",
"transcript": "NM_001367718.1",
"protein_id": "NP_001354647.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1028,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367718.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Met",
"transcript": "ENST00000913420.1",
"protein_id": "ENSP00000583479.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1052,
"cds_start": 995,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913420.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Met",
"transcript": "NM_015315.6",
"protein_id": "NP_056130.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1019,
"cds_start": 896,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015315.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Met",
"transcript": "NM_001367717.1",
"protein_id": "NP_001354646.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 993,
"cds_start": 818,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367717.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Met",
"transcript": "NM_001367713.1",
"protein_id": "NP_001354642.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 891,
"cds_start": 512,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367713.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Met",
"transcript": "NM_001367714.1",
"protein_id": "NP_001354643.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 891,
"cds_start": 512,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367714.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Met",
"transcript": "NM_001367719.1",
"protein_id": "NP_001354648.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 891,
"cds_start": 512,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367719.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Met",
"transcript": "ENST00000685946.1",
"protein_id": "ENSP00000509794.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 891,
"cds_start": 512,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685946.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Met",
"transcript": "ENST00000690816.1",
"protein_id": "ENSP00000508743.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 891,
"cds_start": 512,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690816.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Thr138Met",
"transcript": "NM_001367716.1",
"protein_id": "NP_001354645.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 858,
"cds_start": 413,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367716.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Thr138Met",
"transcript": "ENST00000687700.1",
"protein_id": "ENSP00000508958.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 858,
"cds_start": 413,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687700.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "NM_001367715.1",
"protein_id": "NP_001354644.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 824,
"cds_start": 311,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367715.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Met",
"transcript": "ENST00000524248.5",
"protein_id": "ENSP00000429904.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 609,
"cds_start": 512,
"cds_end": null,
"cds_length": 1832,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524248.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Thr84Met",
"transcript": "ENST00000523163.5",
"protein_id": "ENSP00000430438.1",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 280,
"cds_start": 251,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523163.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000518194.1",
"protein_id": "ENSP00000427731.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 148,
"cds_start": 332,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518194.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1",
"gene_hgnc_id": 29531,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Thr350Met",
"transcript": "XM_011537614.2",
"protein_id": "XP_011535916.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1070,
"cds_start": 1049,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}