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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: 1-159830099-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159830099&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159830099,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020125.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "NM_020125.3",
"protein_id": "NP_064510.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 285,
"cds_start": 274,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289707.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020125.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "ENST00000289707.10",
"protein_id": "ENSP00000289707.5",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 285,
"cds_start": 274,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020125.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289707.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "ENST00000852920.1",
"protein_id": "ENSP00000522979.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 293,
"cds_start": 274,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852920.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.Pro86Thr",
"transcript": "ENST00000852921.1",
"protein_id": "ENSP00000522980.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 279,
"cds_start": 256,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852921.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Pro49Thr",
"transcript": "ENST00000852919.1",
"protein_id": "ENSP00000522978.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 242,
"cds_start": 145,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852919.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Pro48Thr",
"transcript": "ENST00000949530.1",
"protein_id": "ENSP00000619589.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 241,
"cds_start": 142,
"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": "ENST00000949530.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.118C>A",
"hgvs_p": "p.Pro40Thr",
"transcript": "ENST00000949529.1",
"protein_id": "ENSP00000619588.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 233,
"cds_start": 118,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949529.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "XM_011509775.3",
"protein_id": "XP_011508077.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 343,
"cds_start": 274,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509775.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.Pro86Thr",
"transcript": "XM_011509776.3",
"protein_id": "XP_011508078.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 337,
"cds_start": 256,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509776.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "XM_005245345.4",
"protein_id": "XP_005245402.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 335,
"cds_start": 274,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245345.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "XM_011509777.4",
"protein_id": "XP_011508079.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 300,
"cds_start": 274,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509777.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Pro49Thr",
"transcript": "XM_011509778.3",
"protein_id": "XP_011508080.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 300,
"cds_start": 145,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509778.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "XM_017001844.3",
"protein_id": "XP_016857333.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 300,
"cds_start": 274,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001844.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr",
"transcript": "XM_017001845.3",
"protein_id": "XP_016857334.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 293,
"cds_start": 274,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001845.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.Pro86Thr",
"transcript": "XM_017001846.2",
"protein_id": "XP_016857335.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 279,
"cds_start": 256,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001846.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-2777C>A",
"hgvs_p": null,
"transcript": "ENST00000949531.1",
"protein_id": "ENSP00000619590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-2777C>A",
"hgvs_p": null,
"transcript": "NM_001330741.2",
"protein_id": "NP_001317670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330741.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-2777C>A",
"hgvs_p": null,
"transcript": "ENST00000368104.4",
"protein_id": "ENSP00000357084.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368104.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.40+3161C>A",
"hgvs_p": null,
"transcript": "ENST00000852922.1",
"protein_id": "ENSP00000522981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 38,
"cds_start": null,
"cds_end": null,
"cds_length": 117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-2777C>A",
"hgvs_p": null,
"transcript": "XM_011509779.3",
"protein_id": "XP_011508081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509779.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "n.92C>A",
"hgvs_p": null,
"transcript": "ENST00000471286.5",
"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": "pseudogene",
"feature": "ENST00000471286.5"
}
],
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"dbsnp": "rs779125596",
"frequency_reference_population": 0.0000065690074,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.338225781917572,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.1241,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.614,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020125.3",
"gene_symbol": "SLAMF8",
"hgnc_id": 21391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Pro92Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}