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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: 4-92822750-T-TCCAGGGCATG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=92822750&ref=T&alt=TCCAGGGCATG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GRID2",
"hgnc_id": 4576,
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001510.4",
"verdict": "Benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RACK1P3",
"hgnc_id": 55465,
"hgvs_c": "n.159_168dupCATGCCCTGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000510601.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BS1,BS2",
"acmg_score": -10,
"allele_count_reference_population": 1333,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCCAGGGCATG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1007,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5783,
"cdna_start": null,
"cds_end": null,
"cds_length": 3024,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001510.4",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000282020.9",
"protein_coding": true,
"protein_id": "NP_001501.2",
"strand": true,
"transcript": "NM_001510.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1007,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5783,
"cdna_start": null,
"cds_end": null,
"cds_length": 3024,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000282020.9",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001510.4",
"protein_coding": true,
"protein_id": "ENSP00000282020.4",
"strand": true,
"transcript": "ENST00000282020.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510992.5",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421257.1",
"strand": true,
"transcript": "ENST00000510992.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505687.5",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "n.416+232466_416+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505687.5",
"transcript_support_level": 1
},
{
"aa_alt": "PGHA?",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "L",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11587,
"cdna_start": 6431,
"cds_end": null,
"cds_length": 3108,
"cds_start": 20,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011531893.3",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.10_19dupCAGGGCATGC",
"hgvs_p": "p.Leu7fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530195.2",
"strand": true,
"transcript": "XM_011531893.3",
"transcript_support_level": null
},
{
"aa_alt": "PGHA?",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "L",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11539,
"cdna_start": 6431,
"cds_end": null,
"cds_length": 3060,
"cds_start": 20,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017008118.2",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.10_19dupCAGGGCATGC",
"hgvs_p": "p.Leu7fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863607.1",
"strand": true,
"transcript": "XM_017008118.2",
"transcript_support_level": null
},
{
"aa_alt": "PGHA?",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12838,
"cdna_start": 6431,
"cds_end": null,
"cds_length": 2844,
"cds_start": 20,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017008120.3",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.10_19dupCAGGGCATGC",
"hgvs_p": "p.Leu7fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863609.1",
"strand": true,
"transcript": "XM_017008120.3",
"transcript_support_level": null
},
{
"aa_alt": "PGHA?",
"aa_end": null,
"aa_length": 931,
"aa_ref": "L",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12790,
"cdna_start": 6431,
"cds_end": null,
"cds_length": 2796,
"cds_start": 20,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047450132.1",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.10_19dupCAGGGCATGC",
"hgvs_p": "p.Leu7fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306088.1",
"strand": true,
"transcript": "XM_047450132.1",
"transcript_support_level": null
},
{
"aa_alt": "PGHA?",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9154,
"cdna_start": 6431,
"cds_end": null,
"cds_length": 2712,
"cds_start": 20,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017008121.2",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.10_19dupCAGGGCATGC",
"hgvs_p": "p.Leu7fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863610.1",
"strand": true,
"transcript": "XM_017008121.2",
"transcript_support_level": null
},
{
"aa_alt": "PGHA?",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8115,
"cdna_start": 6431,
"cds_end": null,
"cds_length": 1692,
"cds_start": 20,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017008127.2",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.10_19dupCAGGGCATGC",
"hgvs_p": "p.Leu7fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863616.1",
"strand": true,
"transcript": "XM_017008127.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7034,
"cdna_start": null,
"cds_end": null,
"cds_length": 2760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440459.1",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427388.1",
"strand": true,
"transcript": "NM_001440459.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5055,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286838.1",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273767.1",
"strand": true,
"transcript": "NM_001286838.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1023,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5831,
"cdna_start": null,
"cds_end": null,
"cds_length": 3072,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024454024.2",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309792.1",
"strand": true,
"transcript": "XM_024454024.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 875,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": null,
"cds_end": null,
"cds_length": 2628,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017008122.3",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "c.244+232466_244+232475dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863611.1",
"strand": true,
"transcript": "XM_017008122.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "processed_pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000510601.2",
"gene_hgnc_id": 55465,
"gene_symbol": "RACK1P3",
"hgvs_c": "n.159_168dupCATGCCCTGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000510601.2",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": null,
"canonical": null,
"cdna_end": null,
"cdna_length": null,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intragenic_variant"
],
"exon_count": null,
"exon_rank": null,
"exon_rank_end": null,
"feature": null,
"gene_hgnc_id": 55465,
"gene_symbol": "RACK1P3",
"hgvs_c": "n.92822752_92822761dupCAGGGCATGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": null,
"protein_id": null,
"strand": true,
"transcript": null,
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502699.5",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "n.-284_-283insCCAGGGCATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422845.1",
"strand": true,
"transcript": "ENST00000502699.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515744.5",
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"hgvs_c": "n.-199_-198insCCAGGGCATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000515744.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs543784712",
"effect": "intron_variant",
"frequency_reference_population": 0.008315347,
"gene_hgnc_id": 4576,
"gene_symbol": "GRID2",
"gnomad_exomes_ac": 47,
"gnomad_exomes_af": 0.00581108,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1286,
"gnomad_genomes_af": 0.00844841,
"gnomad_genomes_homalt": 9,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 9,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.342,
"pos": 92822750,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001510.4"
}
]
}