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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: 17-38915118-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38915118&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LASP1",
"hgnc_id": 6513,
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Ile195Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_006148.4",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6779",
"hgnc_id": 50148,
"hgvs_c": "n.*76T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NR_106837.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 389,
"alphamissense_prediction": null,
"alphamissense_score": 0.1653,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.014595746994018555,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 261,
"aa_ref": "I",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 716,
"cds_end": null,
"cds_length": 786,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006148.4",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Ile195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318008.11",
"protein_coding": true,
"protein_id": "NP_006139.1",
"strand": true,
"transcript": "NM_006148.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 261,
"aa_ref": "I",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3910,
"cdna_start": 716,
"cds_end": null,
"cds_length": 786,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000318008.11",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Ile195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006148.4",
"protein_coding": true,
"protein_id": "ENSP00000325240.6",
"strand": true,
"transcript": "ENST00000318008.11",
"transcript_support_level": 1
},
{
"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": 1482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000443937.7",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "n.*478T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000414803.3",
"strand": true,
"transcript": "ENST00000443937.7",
"transcript_support_level": 1
},
{
"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": 1482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000443937.7",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "n.*478T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000414803.3",
"strand": true,
"transcript": "ENST00000443937.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 369,
"aa_ref": "I",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1110,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883576.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Ile303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553635.1",
"strand": true,
"transcript": "ENST00000883576.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 261,
"aa_ref": "I",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 822,
"cds_end": null,
"cds_length": 786,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918828.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Ile195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588887.1",
"strand": true,
"transcript": "ENST00000918828.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 261,
"aa_ref": "I",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 914,
"cds_end": null,
"cds_length": 786,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946796.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Ile195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616855.1",
"strand": true,
"transcript": "ENST00000946796.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 255,
"aa_ref": "I",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 699,
"cds_end": null,
"cds_length": 768,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883574.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Ile189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553633.1",
"strand": true,
"transcript": "ENST00000883574.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 241,
"aa_ref": "I",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 717,
"cds_end": null,
"cds_length": 726,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883575.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Ile195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553634.1",
"strand": true,
"transcript": "ENST00000883575.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 205,
"aa_ref": "I",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 631,
"cds_end": null,
"cds_length": 618,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001271608.2",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.416T>C",
"hgvs_p": "p.Ile139Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258537.1",
"strand": true,
"transcript": "NM_001271608.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 205,
"aa_ref": "I",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 830,
"cds_end": null,
"cds_length": 618,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000433206.6",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.416T>C",
"hgvs_p": "p.Ile139Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401048.2",
"strand": true,
"transcript": "ENST00000433206.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 165,
"aa_ref": "I",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 739,
"cds_end": null,
"cds_length": 499,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000419929.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Ile159Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391897.1",
"strand": true,
"transcript": "ENST00000419929.1",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 105,
"aa_ref": "I",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 155,
"cds_end": null,
"cds_length": 318,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000579123.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.155T>C",
"hgvs_p": "p.Ile52Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462564.1",
"strand": true,
"transcript": "ENST00000579123.1",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 225,
"aa_ref": "I",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 749,
"cds_end": null,
"cds_length": 678,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047435965.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Ile159Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291921.1",
"strand": true,
"transcript": "XM_047435965.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000581485.1",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "n.606T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000581485.1",
"transcript_support_level": 3
},
{
"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": 1408,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000585841.5",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "n.*283T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468664.1",
"strand": true,
"transcript": "ENST00000585841.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4080,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_073384.2",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "n.886T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_073384.2",
"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": 1408,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000585841.5",
"gene_hgnc_id": 6513,
"gene_symbol": "LASP1",
"hgvs_c": "n.*283T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468664.1",
"strand": true,
"transcript": "ENST00000585841.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": false,
"cdna_end": null,
"cdna_length": 64,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617283.1",
"gene_hgnc_id": 50148,
"gene_symbol": "MIR6779",
"hgvs_c": "n.*76T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000617283.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 64,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_106837.1",
"gene_hgnc_id": 50148,
"gene_symbol": "MIR6779",
"hgvs_c": "n.*76T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_106837.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": null,
"cdna_end": null,
"cdna_length": 21,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "unassigned_transcript_3016",
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{
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]
}