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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: X-65518442-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65518442&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 65518442,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031206.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>T",
"hgvs_p": "p.Gly491Val",
"transcript": "NM_031206.7",
"protein_id": "NP_112483.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 734,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374811.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031206.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>T",
"hgvs_p": "p.Gly491Val",
"transcript": "ENST00000374811.8",
"protein_id": "ENSP00000363944.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 734,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031206.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374811.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>T",
"hgvs_p": "p.Gly474Val",
"transcript": "ENST00000374807.9",
"protein_id": "ENSP00000363940.5",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 717,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374807.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1514G>T",
"hgvs_p": "p.Gly505Val",
"transcript": "ENST00000867035.1",
"protein_id": "ENSP00000537094.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 748,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867035.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>T",
"hgvs_p": "p.Gly491Val",
"transcript": "NM_001375328.1",
"protein_id": "NP_001362257.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 733,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375328.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>T",
"hgvs_p": "p.Gly491Val",
"transcript": "ENST00000867034.1",
"protein_id": "ENSP00000537093.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 733,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867034.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1451G>T",
"hgvs_p": "p.Gly484Val",
"transcript": "ENST00000867036.1",
"protein_id": "ENSP00000537095.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 727,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867036.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1451G>T",
"hgvs_p": "p.Gly484Val",
"transcript": "ENST00000911726.1",
"protein_id": "ENSP00000581785.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 726,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911726.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1433G>T",
"hgvs_p": "p.Gly478Val",
"transcript": "ENST00000971942.1",
"protein_id": "ENSP00000642001.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 721,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971942.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>T",
"hgvs_p": "p.Gly474Val",
"transcript": "NM_001170649.2",
"protein_id": "NP_001164120.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 717,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170649.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>T",
"hgvs_p": "p.Gly474Val",
"transcript": "NM_001375333.1",
"protein_id": "NP_001362262.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 716,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375333.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>T",
"hgvs_p": "p.Gly474Val",
"transcript": "ENST00000867031.1",
"protein_id": "ENSP00000537090.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 716,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867031.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1379G>T",
"hgvs_p": "p.Gly460Val",
"transcript": "ENST00000971940.1",
"protein_id": "ENSP00000641999.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 703,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971940.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Gly449Val",
"transcript": "ENST00000867037.1",
"protein_id": "ENSP00000537096.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 692,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867037.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1328G>T",
"hgvs_p": "p.Gly443Val",
"transcript": "ENST00000971938.1",
"protein_id": "ENSP00000641997.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 686,
"cds_start": 1328,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971938.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1307G>T",
"hgvs_p": "p.Gly436Val",
"transcript": "ENST00000911730.1",
"protein_id": "ENSP00000581789.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 679,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911730.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "NM_001170650.2",
"protein_id": "NP_001164121.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 675,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170650.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "ENST00000374804.9",
"protein_id": "ENSP00000363937.5",
"transcript_support_level": 2,
"aa_start": 432,
"aa_end": null,
"aa_length": 675,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374804.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "ENST00000911728.1",
"protein_id": "ENSP00000581787.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 675,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911728.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "ENST00000867032.1",
"protein_id": "ENSP00000537091.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 674,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867032.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1265G>T",
"hgvs_p": "p.Gly422Val",
"transcript": "ENST00000867033.1",
"protein_id": "ENSP00000537092.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 665,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867033.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1265G>T",
"hgvs_p": "p.Gly422Val",
"transcript": "ENST00000911727.1",
"protein_id": "ENSP00000581786.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 665,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.03764691948890686,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_031206.7",
"gene_symbol": "LAS1L",
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"effects": [
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],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.1472G>T",
"hgvs_p": "p.Gly491Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}