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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: 2-232756224-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232756224&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232756224,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001103146.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "NM_001103146.3",
"protein_id": "NP_001096616.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1299,
"cds_start": 269,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "ENST00000373563.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000373563.9",
"protein_id": "ENSP00000362664.5",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1299,
"cds_start": 269,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "NM_001103146.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000409451.7",
"protein_id": "ENSP00000387170.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1320,
"cds_start": 269,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000409547.5",
"protein_id": "ENSP00000386537.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1299,
"cds_start": 269,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000409196.7",
"protein_id": "ENSP00000387070.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1293,
"cds_start": 269,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000440945.5",
"protein_id": "ENSP00000410297.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 835,
"cds_start": 269,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000409480.5",
"protein_id": "ENSP00000386765.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 1321,
"cds_start": 269,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000629305.2",
"protein_id": "ENSP00000487548.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 1321,
"cds_start": 269,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "NM_001103147.2",
"protein_id": "NP_001096617.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1320,
"cds_start": 269,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "NM_015575.4",
"protein_id": "NP_056390.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1299,
"cds_start": 269,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 7928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "NM_001103148.2",
"protein_id": "NP_001096618.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1293,
"cds_start": 269,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000423659.5",
"protein_id": "ENSP00000404195.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 719,
"cds_start": 269,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000428883.5",
"protein_id": "ENSP00000402712.1",
"transcript_support_level": 4,
"aa_start": 90,
"aa_end": null,
"aa_length": 114,
"cds_start": 269,
"cds_end": null,
"cds_length": 346,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000430720.5",
"protein_id": "ENSP00000396958.1",
"transcript_support_level": 4,
"aa_start": 90,
"aa_end": null,
"aa_length": 111,
"cds_start": 269,
"cds_end": null,
"cds_length": 338,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000429187.5",
"protein_id": "ENSP00000392991.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 105,
"cds_start": 269,
"cds_end": null,
"cds_length": 319,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000425040.5",
"protein_id": "ENSP00000407161.1",
"transcript_support_level": 4,
"aa_start": 90,
"aa_end": null,
"aa_length": 98,
"cds_start": 269,
"cds_end": null,
"cds_length": 299,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys",
"transcript": "ENST00000421433.5",
"protein_id": "ENSP00000402053.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 92,
"cds_start": 269,
"cds_end": null,
"cds_length": 280,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.421G>A",
"hgvs_p": null,
"transcript": "ENST00000463554.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.382G>A",
"hgvs_p": null,
"transcript": "NR_103492.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.131-4262G>A",
"hgvs_p": null,
"transcript": "ENST00000456491.5",
"protein_id": "ENSP00000413612.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.268-4260G>A",
"hgvs_p": null,
"transcript": "ENST00000424038.2",
"protein_id": "ENSP00000399064.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"dbsnp": "rs147476925",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000121714,
"gnomad_genomes_af": 0.0000207194,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49447712302207947,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10599999874830246,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.468,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7435,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0038534965388153,
"dbscsnv_ada_prediction": "Benign",
"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_001103146.3",
"gene_symbol": "GIGYF2",
"hgnc_id": 11960,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}