← Back to variant description
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-120447979-TA-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120447979&ref=TA&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LAMP2",
"hgnc_id": 6501,
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001122606.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1233,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002294.3",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000200639.9",
"protein_coding": true,
"protein_id": "NP_002285.1",
"strand": false,
"transcript": "NM_002294.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1233,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000200639.9",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002294.3",
"protein_coding": true,
"protein_id": "ENSP00000200639.4",
"strand": false,
"transcript": "ENST00000200639.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 411,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1236,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434600.6",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408411.2",
"strand": false,
"transcript": "ENST00000434600.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1233,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371335.4",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360386.4",
"strand": false,
"transcript": "ENST00000371335.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 454,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1365,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706600.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516464.1",
"strand": false,
"transcript": "ENST00000706600.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 452,
"aa_ref": "I",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1359,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866856.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.728_729delTAinsGG",
"hgvs_p": "p.Ile243Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536915.1",
"strand": false,
"transcript": "ENST00000866856.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 442,
"aa_ref": "I",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1329,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952168.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.698_699delTAinsGG",
"hgvs_p": "p.Ile233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622227.1",
"strand": false,
"transcript": "ENST00000952168.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 441,
"aa_ref": "I",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1326,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866858.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.695_696delTAinsGG",
"hgvs_p": "p.Ile232Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536917.1",
"strand": false,
"transcript": "ENST00000866858.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 436,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1311,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952163.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622222.1",
"strand": false,
"transcript": "ENST00000952163.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 426,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1281,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866853.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536912.1",
"strand": false,
"transcript": "ENST00000866853.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 415,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1248,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866857.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536916.1",
"strand": false,
"transcript": "ENST00000866857.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 411,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1236,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001122606.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116078.1",
"strand": false,
"transcript": "NM_001122606.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4073,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1233,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013995.2",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054701.1",
"strand": false,
"transcript": "NM_013995.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 409,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1230,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952162.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622221.1",
"strand": false,
"transcript": "ENST00000952162.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 409,
"aa_ref": "I",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1230,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952165.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.599_600delTAinsGG",
"hgvs_p": "p.Ile200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622224.1",
"strand": false,
"transcript": "ENST00000952165.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 408,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1227,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952166.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622225.1",
"strand": false,
"transcript": "ENST00000952166.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1194,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866855.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.563_564delTAinsGG",
"hgvs_p": "p.Ile188Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536914.1",
"strand": false,
"transcript": "ENST00000866855.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1095,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952167.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.464_465delTAinsGG",
"hgvs_p": "p.Ile155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622226.1",
"strand": false,
"transcript": "ENST00000952167.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1068,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952164.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.602_603delTAinsGG",
"hgvs_p": "p.Ile201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622223.1",
"strand": false,
"transcript": "ENST00000952164.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "I",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 423,
"cds_end": null,
"cds_length": 900,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866854.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.269_270delTAinsGG",
"hgvs_p": "p.Ile90Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536913.1",
"strand": false,
"transcript": "ENST00000866854.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 122,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": 369,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936274.1",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "c.65-6086_65-6085delTAinsGG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606333.1",
"strand": false,
"transcript": "ENST00000936274.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000486593.5",
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"hgvs_c": "n.143_144delTAinsGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431526.1",
"strand": false,
"transcript": "ENST00000486593.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6501,
"gene_symbol": "LAMP2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.083,
"pos": 120447979,
"ref": "TA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001122606.1"
}
]
}