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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: 7-150466916-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150466916&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150466916,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_175571.4",
"consequences": [
{
"aa_ref": "I",
"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": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "NM_175571.4",
"protein_id": "NP_783161.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": "ENST00000307271.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175571.4"
},
{
"aa_ref": "I",
"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": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000307271.4",
"protein_id": "ENSP00000305107.3",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": "NM_175571.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307271.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000901634.1",
"protein_id": "ENSP00000571693.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901634.1"
},
{
"aa_ref": "I",
"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": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000901635.1",
"protein_id": "ENSP00000571694.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901635.1"
},
{
"aa_ref": "I",
"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": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000901636.1",
"protein_id": "ENSP00000571695.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901636.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000901637.1",
"protein_id": "ENSP00000571696.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901637.1"
},
{
"aa_ref": "I",
"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": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000901638.1",
"protein_id": "ENSP00000571697.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901638.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000954718.1",
"protein_id": "ENSP00000624777.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954718.1"
},
{
"aa_ref": "I",
"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": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000954719.1",
"protein_id": "ENSP00000624778.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954719.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000901633.1",
"protein_id": "ENSP00000571692.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 456,
"cds_start": 218,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901633.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000954720.1",
"protein_id": "ENSP00000624779.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 456,
"cds_start": 218,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954720.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "XM_005249950.5",
"protein_id": "XP_005250007.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 665,
"cds_start": 218,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249950.5"
}
],
"gene_symbol": "GIMAP8",
"gene_hgnc_id": 21792,
"dbsnp": "rs375220398",
"frequency_reference_population": 0.000019205463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000191532,
"gnomad_genomes_af": 0.000019707,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01661241054534912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3199999928474426,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0716,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.266,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_175571.4",
"gene_symbol": "GIMAP8",
"hgnc_id": 21792,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr"
}
],
"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
}