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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-120449062-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120449062&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 120449062,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001122606.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "NM_002294.3",
"protein_id": "NP_002285.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 410,
"cds_start": 463,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": "ENST00000200639.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002294.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000200639.9",
"protein_id": "ENSP00000200639.4",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 410,
"cds_start": 463,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": "NM_002294.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200639.9"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000434600.6",
"protein_id": "ENSP00000408411.2",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 463,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434600.6"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000371335.4",
"protein_id": "ENSP00000360386.4",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 410,
"cds_start": 463,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371335.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000706600.1",
"protein_id": "ENSP00000516464.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 454,
"cds_start": 463,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706600.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.589delA",
"hgvs_p": "p.Ser197fs",
"transcript": "ENST00000866856.1",
"protein_id": "ENSP00000536915.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 452,
"cds_start": 589,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866856.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.559delA",
"hgvs_p": "p.Ser187fs",
"transcript": "ENST00000952168.1",
"protein_id": "ENSP00000622227.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 442,
"cds_start": 559,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952168.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.556delA",
"hgvs_p": "p.Ser186fs",
"transcript": "ENST00000866858.1",
"protein_id": "ENSP00000536917.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 441,
"cds_start": 556,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866858.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000952163.1",
"protein_id": "ENSP00000622222.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 436,
"cds_start": 463,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952163.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000866853.1",
"protein_id": "ENSP00000536912.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 426,
"cds_start": 463,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866853.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000866857.1",
"protein_id": "ENSP00000536916.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 415,
"cds_start": 463,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866857.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "NM_001122606.1",
"protein_id": "NP_001116078.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 411,
"cds_start": 463,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122606.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "NM_013995.2",
"protein_id": "NP_054701.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 410,
"cds_start": 463,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013995.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000952162.1",
"protein_id": "ENSP00000622221.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 409,
"cds_start": 463,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952162.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.460delA",
"hgvs_p": "p.Ser154fs",
"transcript": "ENST00000952165.1",
"protein_id": "ENSP00000622224.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 409,
"cds_start": 460,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952165.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000952166.1",
"protein_id": "ENSP00000622225.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 408,
"cds_start": 463,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952166.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.424delA",
"hgvs_p": "p.Ser142fs",
"transcript": "ENST00000866855.1",
"protein_id": "ENSP00000536914.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 397,
"cds_start": 424,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866855.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "ENST00000952167.1",
"protein_id": "ENSP00000622226.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 364,
"cds_start": 325,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952167.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000952164.1",
"protein_id": "ENSP00000622223.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 355,
"cds_start": 463,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952164.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.130delA",
"hgvs_p": "p.Ser44fs",
"transcript": "ENST00000866854.1",
"protein_id": "ENSP00000536913.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 299,
"cds_start": 130,
"cds_end": null,
"cds_length": 900,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "c.65-7169delA",
"hgvs_p": null,
"transcript": "ENST00000936274.1",
"protein_id": "ENSP00000606333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"hgvs_c": "n.4delA",
"hgvs_p": null,
"transcript": "ENST00000486593.5",
"protein_id": "ENSP00000431526.1",
"transcript_support_level": 5,
"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": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486593.5"
}
],
"gene_symbol": "LAMP2",
"gene_hgnc_id": 6501,
"dbsnp": "rs193922649",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.385,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001122606.1",
"gene_symbol": "LAMP2",
"hgnc_id": 6501,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.463delA",
"hgvs_p": "p.Ser155fs"
}
],
"clinvar_disease": "Danon disease,Primary familial hypertrophic cardiomyopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Danon disease|Primary familial hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}