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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: 17-38914428-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38914428&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 38914428,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006148.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"transcript": "NM_006148.4",
"protein_id": "NP_006139.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 261,
"cds_start": 461,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318008.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006148.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"transcript": "ENST00000318008.11",
"protein_id": "ENSP00000325240.6",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 261,
"cds_start": 461,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006148.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318008.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "n.*355G>C",
"hgvs_p": null,
"transcript": "ENST00000443937.7",
"protein_id": "ENSP00000414803.3",
"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": "ENST00000443937.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "n.*355G>C",
"hgvs_p": null,
"transcript": "ENST00000443937.7",
"protein_id": "ENSP00000414803.3",
"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": "ENST00000443937.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.785G>C",
"hgvs_p": "p.Arg262Pro",
"transcript": "ENST00000883576.1",
"protein_id": "ENSP00000553635.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 369,
"cds_start": 785,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883576.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"transcript": "ENST00000918828.1",
"protein_id": "ENSP00000588887.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 261,
"cds_start": 461,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918828.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"transcript": "ENST00000946796.1",
"protein_id": "ENSP00000616855.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 261,
"cds_start": 461,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946796.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.443G>C",
"hgvs_p": "p.Arg148Pro",
"transcript": "ENST00000883574.1",
"protein_id": "ENSP00000553633.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 255,
"cds_start": 443,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883574.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"transcript": "ENST00000883575.1",
"protein_id": "ENSP00000553634.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 461,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883575.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.293G>C",
"hgvs_p": "p.Arg98Pro",
"transcript": "NM_001271608.2",
"protein_id": "NP_001258537.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 205,
"cds_start": 293,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271608.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.293G>C",
"hgvs_p": "p.Arg98Pro",
"transcript": "ENST00000433206.6",
"protein_id": "ENSP00000401048.2",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 205,
"cds_start": 293,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433206.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "ENST00000419929.1",
"protein_id": "ENSP00000391897.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 165,
"cds_start": 353,
"cds_end": null,
"cds_length": 499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419929.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.32G>C",
"hgvs_p": "p.Arg11Pro",
"transcript": "ENST00000579123.1",
"protein_id": "ENSP00000462564.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 105,
"cds_start": 32,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579123.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "XM_047435965.1",
"protein_id": "XP_047291921.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 225,
"cds_start": 353,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "n.483G>C",
"hgvs_p": null,
"transcript": "ENST00000581485.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000581485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "n.*160G>C",
"hgvs_p": null,
"transcript": "ENST00000585841.5",
"protein_id": "ENSP00000468664.1",
"transcript_support_level": 2,
"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": "ENST00000585841.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "n.763G>C",
"hgvs_p": null,
"transcript": "NR_073384.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_073384.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"hgvs_c": "n.*160G>C",
"hgvs_p": null,
"transcript": "ENST00000585841.5",
"protein_id": "ENSP00000468664.1",
"transcript_support_level": 2,
"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": "ENST00000585841.5"
}
],
"gene_symbol": "LASP1",
"gene_hgnc_id": 6513,
"dbsnp": "rs778100520",
"frequency_reference_population": 0.000010965453,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109655,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20828396081924438,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.87,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006148.4",
"gene_symbol": "LASP1",
"hgnc_id": 6513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}