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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: 2-219212413-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219212413&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219212413,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_005689.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648*",
"transcript": "NM_005689.4",
"protein_id": "NP_005680.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 842,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265316.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005689.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648*",
"transcript": "ENST00000265316.9",
"protein_id": "ENSP00000265316.3",
"transcript_support_level": 1,
"aa_start": 648,
"aa_end": null,
"aa_length": 842,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005689.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265316.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284820",
"gene_hgnc_id": null,
"hgvs_c": "n.*3901C>T",
"hgvs_p": null,
"transcript": "ENST00000446716.5",
"protein_id": "ENSP00000398528.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284820",
"gene_hgnc_id": null,
"hgvs_c": "n.*3901C>T",
"hgvs_p": null,
"transcript": "ENST00000446716.5",
"protein_id": "ENSP00000398528.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446716.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1966C>T",
"hgvs_p": "p.Arg656*",
"transcript": "ENST00000958200.1",
"protein_id": "ENSP00000628259.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 850,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958200.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648*",
"transcript": "ENST00000856963.1",
"protein_id": "ENSP00000527022.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 839,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856963.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"transcript": "ENST00000856961.1",
"protein_id": "ENSP00000527020.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 829,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856961.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Arg634*",
"transcript": "ENST00000958201.1",
"protein_id": "ENSP00000628260.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 828,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958201.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Arg631*",
"transcript": "ENST00000856962.1",
"protein_id": "ENSP00000527021.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 825,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856962.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Arg627*",
"transcript": "ENST00000958199.1",
"protein_id": "ENSP00000628258.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 821,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958199.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Arg606*",
"transcript": "ENST00000856959.1",
"protein_id": "ENSP00000527018.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 800,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856959.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1804C>T",
"hgvs_p": "p.Arg602*",
"transcript": "NM_001349828.2",
"protein_id": "NP_001336757.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 796,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349828.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1804C>T",
"hgvs_p": "p.Arg602*",
"transcript": "ENST00000295750.5",
"protein_id": "ENSP00000295750.5",
"transcript_support_level": 5,
"aa_start": 602,
"aa_end": null,
"aa_length": 796,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295750.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Arg600*",
"transcript": "ENST00000856960.1",
"protein_id": "ENSP00000527019.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 794,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856960.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Arg546*",
"transcript": "ENST00000958202.1",
"protein_id": "ENSP00000628261.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 740,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958202.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "ENST00000958203.1",
"protein_id": "ENSP00000628262.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 450,
"cds_start": 766,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958203.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.492C>T",
"hgvs_p": null,
"transcript": "ENST00000492543.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"hgvs_c": "n.2255C>T",
"hgvs_p": null,
"transcript": "ENST00000497882.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497882.5"
}
],
"gene_symbol": "ABCB6",
"gene_hgnc_id": 47,
"dbsnp": "rs376664522",
"frequency_reference_population": 0.00008116662,
"hom_count_reference_population": 0,
"allele_count_reference_population": 131,
"gnomad_exomes_af": 0.0000820871,
"gnomad_genomes_af": 0.0000723199,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.61,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005689.4",
"gene_symbol": "ABCB6",
"hgnc_id": 47,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000446716.5",
"gene_symbol": "ENSG00000284820",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*3901C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Langereis blood group,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Langereis blood group|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}