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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: 2-11819590-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11819590&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11819590,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000674199.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2509C>T",
"hgvs_p": "p.Arg837*",
"transcript": "NM_001349206.2",
"protein_id": "NP_001336135.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 926,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": "ENST00000674199.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2509C>T",
"hgvs_p": "p.Arg837*",
"transcript": "ENST00000674199.1",
"protein_id": "ENSP00000501331.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 926,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": "NM_001349206.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2401C>T",
"hgvs_p": "p.Arg801*",
"transcript": "ENST00000256720.6",
"protein_id": "ENSP00000256720.2",
"transcript_support_level": 1,
"aa_start": 801,
"aa_end": null,
"aa_length": 890,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 5384,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.1994C>T",
"hgvs_p": null,
"transcript": "ENST00000404113.6",
"protein_id": null,
"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": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2656C>T",
"hgvs_p": "p.Arg886*",
"transcript": "NM_001261428.3",
"protein_id": "NP_001248357.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 975,
"cds_start": 2656,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2656C>T",
"hgvs_p": "p.Arg886*",
"transcript": "ENST00000449576.6",
"protein_id": "ENSP00000397908.2",
"transcript_support_level": 2,
"aa_start": 886,
"aa_end": null,
"aa_length": 975,
"cds_start": 2656,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2599C>T",
"hgvs_p": "p.Arg867*",
"transcript": "NM_001349207.2",
"protein_id": "NP_001336136.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 956,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2548C>T",
"hgvs_p": "p.Arg850*",
"transcript": "NM_001349208.2",
"protein_id": "NP_001336137.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 939,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2527C>T",
"hgvs_p": "p.Arg843*",
"transcript": "ENST00000396097.5",
"protein_id": "ENSP00000379404.2",
"transcript_support_level": 5,
"aa_start": 843,
"aa_end": null,
"aa_length": 932,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2509C>T",
"hgvs_p": "p.Arg837*",
"transcript": "NM_001349204.2",
"protein_id": "NP_001336133.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 926,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2509C>T",
"hgvs_p": "p.Arg837*",
"transcript": "NM_001349205.2",
"protein_id": "NP_001336134.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 926,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2506C>T",
"hgvs_p": "p.Arg836*",
"transcript": "NM_001349202.2",
"protein_id": "NP_001336131.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 925,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2506C>T",
"hgvs_p": "p.Arg836*",
"transcript": "NM_001349203.2",
"protein_id": "NP_001336132.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 925,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2479C>T",
"hgvs_p": "p.Arg827*",
"transcript": "NM_001349200.2",
"protein_id": "NP_001336129.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 916,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2646,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2479C>T",
"hgvs_p": "p.Arg827*",
"transcript": "NM_001349201.2",
"protein_id": "NP_001336130.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 916,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807*",
"transcript": "NM_001261427.3",
"protein_id": "NP_001248356.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 896,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 5605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807*",
"transcript": "ENST00000425416.6",
"protein_id": "ENSP00000401522.2",
"transcript_support_level": 2,
"aa_start": 807,
"aa_end": null,
"aa_length": 896,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2696,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2401C>T",
"hgvs_p": "p.Arg801*",
"transcript": "NM_001349199.2",
"protein_id": "NP_001336128.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 890,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 5458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.2401C>T",
"hgvs_p": "p.Arg801*",
"transcript": "NM_145693.4",
"protein_id": "NP_663731.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 890,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 5340,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.*416C>T",
"hgvs_p": null,
"transcript": "ENST00000396099.5",
"protein_id": "ENSP00000379406.2",
"transcript_support_level": 5,
"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": 3228,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.3438C>T",
"hgvs_p": null,
"transcript": "ENST00000475922.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 5432,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.2450C>T",
"hgvs_p": null,
"transcript": "NR_146080.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5492,
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.*416C>T",
"hgvs_p": null,
"transcript": "ENST00000396099.5",
"protein_id": "ENSP00000379406.2",
"transcript_support_level": 5,
"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": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"dbsnp": "rs119480073",
"frequency_reference_population": 0.00001612287,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000171174,
"gnomad_genomes_af": 0.00000657384,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.204,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000674199.1",
"gene_symbol": "LPIN1",
"hgnc_id": 13345,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2509C>T",
"hgvs_p": "p.Arg837*"
}
],
"clinvar_disease": " acute recurrent, autosomal recessive,Myoglobinuria,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Myoglobinuria, acute recurrent, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}