← Back to variant description
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: 1-23796007-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23796007&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23796007,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000403.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "NM_001008216.2",
"protein_id": "NP_001008217.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": "ENST00000617979.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008216.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000617979.5",
"protein_id": "ENSP00000483375.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": "NM_001008216.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617979.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000374497.7",
"protein_id": "ENSP00000363621.3",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374497.7"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "NM_000403.4",
"protein_id": "NP_000394.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000403.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "NM_001127621.2",
"protein_id": "NP_001121093.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127621.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000854948.1",
"protein_id": "ENSP00000525007.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854948.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000927392.1",
"protein_id": "ENSP00000597451.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927392.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000927393.1",
"protein_id": "ENSP00000597452.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927393.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000958001.1",
"protein_id": "ENSP00000628060.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958001.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe",
"transcript": "ENST00000958002.1",
"protein_id": "ENSP00000628061.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 348,
"cds_start": 989,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958002.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.986G>T",
"hgvs_p": "p.Cys329Phe",
"transcript": "ENST00000854949.1",
"protein_id": "ENSP00000525008.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 347,
"cds_start": 986,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854949.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Cys292Phe",
"transcript": "ENST00000854947.1",
"protein_id": "ENSP00000525006.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 310,
"cds_start": 875,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854947.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Cys292Phe",
"transcript": "ENST00000854950.1",
"protein_id": "ENSP00000525009.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 310,
"cds_start": 875,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854950.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.269G>T",
"hgvs_p": "p.Cys90Phe",
"transcript": "ENST00000456977.5",
"protein_id": "ENSP00000397045.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 108,
"cds_start": 269,
"cds_end": null,
"cds_length": 327,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456977.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "n.1217G>T",
"hgvs_p": null,
"transcript": "ENST00000459934.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000459934.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "n.879G>T",
"hgvs_p": null,
"transcript": "ENST00000469556.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 882,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "n.1393G>T",
"hgvs_p": null,
"transcript": "ENST00000481736.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481736.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"hgvs_c": "c.*144G>T",
"hgvs_p": null,
"transcript": "ENST00000429356.5",
"protein_id": "ENSP00000398585.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429356.5"
}
],
"gene_symbol": "GALE",
"gene_hgnc_id": 4116,
"dbsnp": "rs768527360",
"frequency_reference_population": 0.0000013682717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136827,
"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": 0.9027810096740723,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9919999837875366,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.823,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8934,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.559,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.19,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999780227856486,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000403.4",
"gene_symbol": "GALE",
"hgnc_id": 4116,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Cys330Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}