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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: 1-23193425-CG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23193425&ref=CG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HTR1D",
"hgnc_id": 5289,
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000864.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000864.5",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374619.2",
"protein_coding": true,
"protein_id": "NP_000855.1",
"strand": false,
"transcript": "NM_000864.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374619.2",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000864.5",
"protein_coding": true,
"protein_id": "ENSP00000363748.1",
"strand": false,
"transcript": "ENST00000374619.2",
"transcript_support_level": 6
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918575.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588634.1",
"strand": false,
"transcript": "ENST00000918575.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918576.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588635.1",
"strand": false,
"transcript": "ENST00000918576.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918577.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588636.1",
"strand": false,
"transcript": "ENST00000918577.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918578.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588637.1",
"strand": false,
"transcript": "ENST00000918578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918579.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588638.1",
"strand": false,
"transcript": "ENST00000918579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918580.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588639.1",
"strand": false,
"transcript": "ENST00000918580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918581.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588640.1",
"strand": false,
"transcript": "ENST00000918581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918582.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588641.1",
"strand": false,
"transcript": "ENST00000918582.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918583.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588642.1",
"strand": false,
"transcript": "ENST00000918583.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918584.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588643.1",
"strand": false,
"transcript": "ENST00000918584.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918585.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588644.1",
"strand": false,
"transcript": "ENST00000918585.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 1134,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918586.1",
"gene_hgnc_id": 5289,
"gene_symbol": "HTR1D",
"hgvs_c": "c.794_795delCGinsTA",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588645.1",
"strand": false,
"transcript": "ENST00000918586.1",
"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": 5289,
"gene_symbol": "HTR1D",
"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": "Uncertain_significance",
"phylop100way_score": 6.892,
"pos": 23193425,
"ref": "CG",
"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_000864.5"
}
]
}