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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: 1-159829962-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159829962&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159829962,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020125.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "NM_020125.3",
"protein_id": "NP_064510.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 285,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000289707.10",
"protein_id": "ENSP00000289707.5",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 285,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000852920.1",
"protein_id": "ENSP00000522979.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "ENST00000852921.1",
"protein_id": "ENSP00000522980.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 279,
"cds_start": 119,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "XM_011509775.3",
"protein_id": "XP_011508077.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 343,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "XM_011509776.3",
"protein_id": "XP_011508078.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 337,
"cds_start": 119,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "XM_005245345.4",
"protein_id": "XP_005245402.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 335,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "XM_011509777.4",
"protein_id": "XP_011508079.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 300,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "XM_017001844.3",
"protein_id": "XP_016857333.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 300,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "XM_017001845.3",
"protein_id": "XP_016857334.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 137,
"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": "R",
"aa_alt": "L",
"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.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "XM_017001846.2",
"protein_id": "XP_016857335.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 279,
"cds_start": 119,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-33G>T",
"hgvs_p": null,
"transcript": "ENST00000852919.1",
"protein_id": "ENSP00000522978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-36G>T",
"hgvs_p": null,
"transcript": "ENST00000949530.1",
"protein_id": "ENSP00000619589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-60G>T",
"hgvs_p": null,
"transcript": "ENST00000949529.1",
"protein_id": "ENSP00000619588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"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": 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.41-2914G>T",
"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.41-2914G>T",
"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.41-2914G>T",
"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,
"aa_alt": null,
"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+3024G>T",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "c.41-33G>T",
"hgvs_p": null,
"transcript": "XM_011509778.3",
"protein_id": "XP_011508080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"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": 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.41-2914G>T",
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLAMF8",
"gene_hgnc_id": 21391,
"hgvs_c": "n.-46G>T",
"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": "rs371616421",
"frequency_reference_population": 0.0000013680939,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7672607898712158,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.5664,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.641,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.16,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020125.3",
"gene_symbol": "SLAMF8",
"hgnc_id": 21391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}