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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: 16-190001-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=190001&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 190001,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_201412.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "NM_201412.3",
"protein_id": "NP_958815.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 371,
"cds_start": 941,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293872.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201412.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "ENST00000293872.13",
"protein_id": "ENSP00000293872.8",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 371,
"cds_start": 941,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201412.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293872.13"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "ENST00000337351.8",
"protein_id": "ENSP00000337507.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 325,
"cds_start": 941,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337351.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*2104G>A",
"hgvs_p": null,
"transcript": "ENST00000426094.5",
"protein_id": "ENSP00000390953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.2260G>A",
"hgvs_p": null,
"transcript": "ENST00000490762.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490762.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*2104G>A",
"hgvs_p": null,
"transcript": "ENST00000426094.5",
"protein_id": "ENSP00000390953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304His",
"transcript": "ENST00000862883.1",
"protein_id": "ENSP00000532942.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 361,
"cds_start": 911,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862883.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281His",
"transcript": "ENST00000862884.1",
"protein_id": "ENSP00000532943.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 338,
"cds_start": 842,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862884.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277His",
"transcript": "ENST00000920890.1",
"protein_id": "ENSP00000590949.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 334,
"cds_start": 830,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920890.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "ENST00000920887.1",
"protein_id": "ENSP00000590946.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 328,
"cds_start": 812,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920887.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "NM_001320226.2",
"protein_id": "NP_001307155.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 325,
"cds_start": 941,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320226.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "NM_018032.5",
"protein_id": "NP_060502.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 325,
"cds_start": 941,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018032.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "ENST00000397783.5",
"protein_id": "ENSP00000380885.1",
"transcript_support_level": 2,
"aa_start": 314,
"aa_end": null,
"aa_length": 325,
"cds_start": 941,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397783.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000920888.1",
"protein_id": "ENSP00000590947.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 323,
"cds_start": 797,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920888.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261His",
"transcript": "NM_001330420.2",
"protein_id": "NP_001317349.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 272,
"cds_start": 782,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330420.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261His",
"transcript": "ENST00000397780.5",
"protein_id": "ENSP00000380882.1",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 272,
"cds_start": 782,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397780.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000920891.1",
"protein_id": "ENSP00000590950.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 227,
"cds_start": 509,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920891.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000429378.5",
"protein_id": "ENSP00000413033.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 170,
"cds_start": 338,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429378.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"transcript": "ENST00000442701.1",
"protein_id": "ENSP00000407781.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 59,
"cds_start": 143,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281His",
"transcript": "XM_011522561.3",
"protein_id": "XP_011520863.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 338,
"cds_start": 842,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522561.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261His",
"transcript": "XM_005255427.4",
"protein_id": "XP_005255484.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 318,
"cds_start": 782,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255427.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228His",
"transcript": "XM_017023438.3",
"protein_id": "XP_016878927.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 285,
"cds_start": 683,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023438.3"
},
{
"aa_ref": "R",
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{
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"non_coding_transcript_exon_variant"
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{
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],
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"hgvs_c": "n.*907G>A",
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"transcript": "ENST00000418978.5",
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],
"gene_symbol": "LUC7L",
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"dbsnp": "rs61743947",
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"hom_count_reference_population": 3,
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"gnomad_exomes_af": 0.000152578,
"gnomad_genomes_af": 0.00158926,
"gnomad_exomes_ac": 223,
"gnomad_genomes_ac": 242,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007810384035110474,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.032,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_201412.3",
"gene_symbol": "LUC7L",
"hgnc_id": 6723,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His"
}
],
"clinvar_disease": "LUC7L-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "LUC7L-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}