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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: 15-100569604-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=100569604&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 100569604,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001040616.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1908C>T",
"hgvs_p": "p.Asp636Asp",
"transcript": "NM_001040616.3",
"protein_id": "NP_001035706.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 757,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314742.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040616.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1908C>T",
"hgvs_p": "p.Asp636Asp",
"transcript": "ENST00000314742.13",
"protein_id": "ENSP00000318423.8",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 757,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314742.13"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1872C>T",
"hgvs_p": "p.Asp624Asp",
"transcript": "ENST00000869609.1",
"protein_id": "ENSP00000539668.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 745,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869609.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Asp621Asp",
"transcript": "ENST00000869606.1",
"protein_id": "ENSP00000539665.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 742,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869606.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.Asp600Asp",
"transcript": "ENST00000869607.1",
"protein_id": "ENSP00000539666.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 721,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869607.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1755C>T",
"hgvs_p": "p.Asp585Asp",
"transcript": "NM_001352508.2",
"protein_id": "NP_001339437.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 706,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352508.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1668C>T",
"hgvs_p": "p.Asp556Asp",
"transcript": "ENST00000916779.1",
"protein_id": "ENSP00000586838.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 677,
"cds_start": 1668,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916779.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1551C>T",
"hgvs_p": "p.Asp517Asp",
"transcript": "ENST00000869608.1",
"protein_id": "ENSP00000539667.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 638,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869608.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Asp387Asp",
"transcript": "NM_001352507.2",
"protein_id": "NP_001339436.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 508,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352507.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1908C>T",
"hgvs_p": "p.Asp636Asp",
"transcript": "XM_005254941.3",
"protein_id": "XP_005254998.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 757,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254941.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1908C>T",
"hgvs_p": "p.Asp636Asp",
"transcript": "XM_024449980.2",
"protein_id": "XP_024305748.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 757,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449980.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.Asp600Asp",
"transcript": "XM_005254943.3",
"protein_id": "XP_005255000.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 721,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254943.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.Asp600Asp",
"transcript": "XM_047432784.1",
"protein_id": "XP_047288740.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 721,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432784.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.Asp600Asp",
"transcript": "XM_047432785.1",
"protein_id": "XP_047288741.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 721,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432785.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Asp387Asp",
"transcript": "XM_017022399.3",
"protein_id": "XP_016877888.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 508,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022399.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2183C>T",
"hgvs_p": null,
"transcript": "ENST00000559169.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000559169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2031C>T",
"hgvs_p": null,
"transcript": "NR_148017.2",
"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_148017.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2019C>T",
"hgvs_p": null,
"transcript": "NR_148018.2",
"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_148018.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.3314C>T",
"hgvs_p": null,
"transcript": "NR_148019.2",
"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_148019.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2177C>T",
"hgvs_p": null,
"transcript": "XR_007064471.1",
"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": "XR_007064471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.190+4047C>T",
"hgvs_p": null,
"transcript": "ENST00000560783.1",
"protein_id": "ENSP00000474128.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560783.1"
}
],
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"dbsnp": "rs753046177",
"frequency_reference_population": 0.000016733497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000136869,
"gnomad_genomes_af": 0.0000459686,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.304,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001040616.3",
"gene_symbol": "LINS1",
"hgnc_id": 30922,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1908C>T",
"hgvs_p": "p.Asp636Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}