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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: 8-41684619-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=41684619&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 41684619,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000289734.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*",
"transcript": "NM_000037.4",
"protein_id": "NP_000028.3",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1880,
"cds_start": 4462,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": "ENST00000289734.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*",
"transcript": "ENST00000289734.13",
"protein_id": "ENSP00000289734.8",
"transcript_support_level": 1,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1880,
"cds_start": 4462,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": "NM_000037.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4585C>T",
"hgvs_p": "p.Arg1529*",
"transcript": "ENST00000265709.14",
"protein_id": "ENSP00000265709.8",
"transcript_support_level": 1,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1897,
"cds_start": 4585,
"cds_end": null,
"cds_length": 5694,
"cdna_start": 4846,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*",
"transcript": "ENST00000347528.8",
"protein_id": "ENSP00000339620.4",
"transcript_support_level": 1,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1881,
"cds_start": 4462,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 8237,
"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": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "n.1945C>T",
"hgvs_p": null,
"transcript": "ENST00000524227.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4681C>T",
"hgvs_p": "p.Arg1561*",
"transcript": "ENST00000705521.1",
"protein_id": "ENSP00000516136.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1953,
"cds_start": 4681,
"cds_end": null,
"cds_length": 5862,
"cdna_start": 4733,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4585C>T",
"hgvs_p": "p.Arg1529*",
"transcript": "NM_001142446.2",
"protein_id": "NP_001135918.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1897,
"cds_start": 4585,
"cds_end": null,
"cds_length": 5694,
"cdna_start": 4846,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*",
"transcript": "NM_020476.3",
"protein_id": "NP_065209.2",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1881,
"cds_start": 4462,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*",
"transcript": "NM_020475.3",
"protein_id": "NP_065208.2",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1856,
"cds_start": 4462,
"cds_end": null,
"cds_length": 5571,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 8157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4498C>T",
"hgvs_p": "p.Arg1500*",
"transcript": "ENST00000705522.1",
"protein_id": "ENSP00000516137.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 1854,
"cds_start": 4498,
"cds_end": null,
"cds_length": 5565,
"cdna_start": 4595,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*",
"transcript": "NM_020477.3",
"protein_id": "NP_065210.2",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1719,
"cds_start": 4462,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 4546,
"cdna_end": null,
"cdna_length": 7746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.2425C>T",
"hgvs_p": "p.Arg809*",
"transcript": "ENST00000520299.5",
"protein_id": "ENSP00000430174.1",
"transcript_support_level": 2,
"aa_start": 809,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.961C>T",
"hgvs_p": "p.Arg321*",
"transcript": "ENST00000645531.1",
"protein_id": "ENSP00000493840.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 552,
"cds_start": 961,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2012,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "n.415C>T",
"hgvs_p": null,
"transcript": "ENST00000518061.1",
"protein_id": "ENSP00000428315.1",
"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": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"dbsnp": "rs777701149",
"frequency_reference_population": 0.0000012393493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84187e-7,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.249,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000289734.13",
"gene_symbol": "ANK1",
"hgnc_id": 492,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4462C>T",
"hgvs_p": "p.Arg1488*"
}
],
"clinvar_disease": "Hereditary spherocytosis type 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "not provided|Hereditary spherocytosis type 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}