← 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: 1-197040668-ATTG-GTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197040668&ref=ATTG&alt=GTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197040668,
"ref": "ATTG",
"alt": "GTT",
"effect": "frameshift_variant,synonymous_variant",
"transcript": "NM_001994.3",
"consequences": [
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1803_1806delCAATinsAAC",
"hgvs_p": "p.Asp601fs",
"transcript": "NM_001994.3",
"protein_id": "NP_001985.2",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 661,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "ENST00000367412.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1803_1806delCAATinsAAC",
"hgvs_p": "p.Asp601fs",
"transcript": "ENST00000367412.2",
"protein_id": "ENSP00000356382.2",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 661,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "NM_001994.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.558_561delCAATinsAAC",
"hgvs_p": "p.Asp186fs",
"transcript": "ENST00000649282.1",
"protein_id": "ENSP00000497116.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 246,
"cds_start": 558,
"cds_end": null,
"cds_length": 741,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1803_1806delCAATinsAAC",
"hgvs_p": "p.Asp601fs",
"transcript": "XM_011509283.3",
"protein_id": "XP_011507585.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 676,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1800_1803delCAATinsAAC",
"hgvs_p": "p.Asp600fs",
"transcript": "XM_011509284.3",
"protein_id": "XP_011507586.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 675,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1800_1803delCAATinsAAC",
"hgvs_p": "p.Asp600fs",
"transcript": "XM_047449422.1",
"protein_id": "XP_047305378.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 660,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DN",
"aa_alt": "E?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1659_1662delCAATinsAAC",
"hgvs_p": "p.Asp553fs",
"transcript": "XM_011509286.3",
"protein_id": "XP_011507588.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 628,
"cds_start": 1659,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "n.214_217delCAATinsAAC",
"hgvs_p": null,
"transcript": "ENST00000490002.1",
"protein_id": null,
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.*5462_*5465delCAATinsAAC",
"hgvs_p": null,
"transcript": "XM_047449423.1",
"protein_id": "XP_047305379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.008,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001994.3",
"gene_symbol": "F13B",
"hgnc_id": 3534,
"effects": [
"frameshift_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1803_1806delCAATinsAAC",
"hgvs_p": "p.Asp601fs"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}