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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: 8-142775637-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142775637&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LYNX1-SLURP2",
"hgnc_id": 52291,
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_023946.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LYNX1",
"hgnc_id": 29604,
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_177457.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.2685,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "8",
"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": 0.2803269922733307,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 371,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_177477.4",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652477.1",
"protein_coding": true,
"protein_id": "NP_803430.1",
"strand": false,
"transcript": "NM_177477.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 371,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652477.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_177477.4",
"protein_coding": true,
"protein_id": "ENSP00000498325.1",
"strand": false,
"transcript": "ENST00000652477.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 131,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 740,
"cds_end": null,
"cds_length": 396,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000615007.4",
"gene_hgnc_id": 52291,
"gene_symbol": "LYNX1-SLURP2",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479586.1",
"strand": false,
"transcript": "ENST00000615007.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 326,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000621401.4",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478390.1",
"strand": false,
"transcript": "ENST00000621401.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 131,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": 388,
"cds_end": null,
"cds_length": 396,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_023946.5",
"gene_hgnc_id": 52291,
"gene_symbol": "LYNX1-SLURP2",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076435.1",
"strand": false,
"transcript": "NM_023946.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 362,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001356370.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001343299.1",
"strand": false,
"transcript": "NM_001356370.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 388,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_177457.5",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_803252.1",
"strand": false,
"transcript": "NM_177457.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": 383,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_177476.4",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_803429.1",
"strand": false,
"transcript": "NM_177476.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 497,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000614491.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477648.1",
"strand": false,
"transcript": "ENST00000614491.1",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": 383,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000620006.4",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478402.1",
"strand": false,
"transcript": "ENST00000620006.4",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4576,
"cdna_start": 367,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897364.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567423.1",
"strand": false,
"transcript": "ENST00000897364.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 392,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897365.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567424.1",
"strand": false,
"transcript": "ENST00000897365.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": 440,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897366.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567425.1",
"strand": false,
"transcript": "ENST00000897366.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": 209,
"cds_end": null,
"cds_length": 351,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897367.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567426.1",
"strand": false,
"transcript": "ENST00000897367.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 83,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 497,
"cds_end": null,
"cds_length": 252,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000613110.4",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481790.1",
"strand": false,
"transcript": "ENST00000613110.4",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 82,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 174,
"cds_end": null,
"cds_length": 249,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000523332.5",
"gene_hgnc_id": 52291,
"gene_symbol": "LYNX1-SLURP2",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428713.1",
"strand": false,
"transcript": "ENST00000523332.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 81,
"aa_ref": "M",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 427,
"cds_end": null,
"cds_length": 246,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000614268.4",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "c.110T>G",
"hgvs_p": "p.Met37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482846.1",
"strand": false,
"transcript": "ENST00000614268.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000522906.1",
"gene_hgnc_id": 29604,
"gene_symbol": "LYNX1",
"hgvs_c": "n.216T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000522906.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs770864661",
"effect": "missense_variant",
"frequency_reference_population": 0.000017461629,
"gene_hgnc_id": 52291,
"gene_symbol": "LYNX1-SLURP2",
"gnomad_exomes_ac": 27,
"gnomad_exomes_af": 0.0000186041,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656935,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.343,
"pos": 142775637,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.181,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07999999821186066,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.08,
"transcript": "NM_023946.5"
}
]
}