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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: 2-65018631-GG-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=65018631&ref=GG&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC1A4",
"hgnc_id": 10942,
"hgvs_c": "c.1316_1317delGGinsAA",
"hgvs_p": "p.Gly439Glu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_003038.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LINC02245",
"hgnc_id": 53134,
"hgvs_c": "n.513+29322_513+29323delCCinsTT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000653778.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003038.5",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.1316_1317delGGinsAA",
"hgvs_p": "p.Gly439Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234256.4",
"protein_coding": true,
"protein_id": "NP_003029.2",
"strand": true,
"transcript": "NM_003038.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000234256.4",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.1316_1317delGGinsAA",
"hgvs_p": "p.Gly439Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003038.5",
"protein_coding": true,
"protein_id": "ENSP00000234256.3",
"strand": true,
"transcript": "ENST00000234256.4",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1316,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906286.1",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.1316_1317delGGinsAA",
"hgvs_p": "p.Gly439Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576345.1",
"strand": true,
"transcript": "ENST00000906286.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906287.1",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.1253_1254delGGinsAA",
"hgvs_p": "p.Gly418Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576346.1",
"strand": true,
"transcript": "ENST00000906287.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 363,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1092,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969683.1",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.809_810delGGinsAA",
"hgvs_p": "p.Gly270Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639742.1",
"strand": true,
"transcript": "ENST00000969683.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "G",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 931,
"cds_end": null,
"cds_length": 939,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348406.2",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.656_657delGGinsAA",
"hgvs_p": "p.Gly219Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335335.1",
"strand": true,
"transcript": "NM_001348406.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 312,
"aa_ref": "G",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 865,
"cds_end": null,
"cds_length": 939,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348407.2",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.656_657delGGinsAA",
"hgvs_p": "p.Gly219Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335336.1",
"strand": true,
"transcript": "NM_001348407.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 234,
"aa_ref": "G",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 697,
"cds_end": null,
"cds_length": 705,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193493.2",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.422_423delGGinsAA",
"hgvs_p": "p.Gly141Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180422.1",
"strand": true,
"transcript": "NM_001193493.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 234,
"aa_ref": "G",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1217,
"cdna_start": 686,
"cds_end": null,
"cds_length": 705,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531327.5",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.422_423delGGinsAA",
"hgvs_p": "p.Gly141Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431942.1",
"strand": true,
"transcript": "ENST00000531327.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906288.1",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "c.1229+366_1229+367delGGinsAA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576347.1",
"strand": true,
"transcript": "ENST00000906288.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5789,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000480594.1",
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"hgvs_c": "n.2789_2790delGGinsAA",
"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": "ENST00000480594.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000653778.1",
"gene_hgnc_id": 53134,
"gene_symbol": "LINC02245",
"hgvs_c": "n.513+29322_513+29323delCCinsTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000653778.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000669631.1",
"gene_hgnc_id": 53134,
"gene_symbol": "LINC02245",
"hgvs_c": "n.226+29322_226+29323delCCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000669631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000771808.1",
"gene_hgnc_id": 53134,
"gene_symbol": "LINC02245",
"hgvs_c": "n.573+29322_573+29323delCCinsTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000771808.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000771809.1",
"gene_hgnc_id": 53134,
"gene_symbol": "LINC02245",
"hgvs_c": "n.259+29322_259+29323delCCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000771809.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10942,
"gene_symbol": "SLC1A4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 65018631,
"ref": "GG",
"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_003038.5"
}
]
}