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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: 20-49017374-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=49017374&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 49017374,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006420.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4441A>C",
"hgvs_p": "p.Thr1481Pro",
"transcript": "NM_006420.3",
"protein_id": "NP_006411.2",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 4620,
"cdna_end": null,
"cdna_length": 9031,
"mane_select": "ENST00000371917.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006420.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4441A>C",
"hgvs_p": "p.Thr1481Pro",
"transcript": "ENST00000371917.5",
"protein_id": "ENSP00000360985.4",
"transcript_support_level": 1,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 4620,
"cdna_end": null,
"cdna_length": 9031,
"mane_select": "NM_006420.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371917.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4438A>C",
"hgvs_p": "p.Thr1480Pro",
"transcript": "NM_001410846.1",
"protein_id": "NP_001397775.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 9028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410846.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4438A>C",
"hgvs_p": "p.Thr1480Pro",
"transcript": "ENST00000679436.1",
"protein_id": "ENSP00000504888.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679436.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4435A>C",
"hgvs_p": "p.Thr1479Pro",
"transcript": "ENST00000939861.1",
"protein_id": "ENSP00000609920.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4435,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4562,
"cdna_end": null,
"cdna_length": 8973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939861.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4441A>C",
"hgvs_p": "p.Thr1481Pro",
"transcript": "ENST00000681021.1",
"protein_id": "ENSP00000505972.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 4441,
"cdna_end": null,
"cdna_length": 6583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681021.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.4201A>C",
"hgvs_p": "p.Thr1401Pro",
"transcript": "ENST00000963182.1",
"protein_id": "ENSP00000633241.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4201,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 4363,
"cdna_end": null,
"cdna_length": 8069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963182.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "c.3877A>C",
"hgvs_p": "p.Thr1293Pro",
"transcript": "XM_047439832.1",
"protein_id": "XP_047295788.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1597,
"cds_start": 3877,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 8876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L-DT",
"gene_hgnc_id": 51232,
"hgvs_c": "n.917T>G",
"hgvs_p": null,
"transcript": "ENST00000417781.6",
"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": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417781.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.4134A>C",
"hgvs_p": null,
"transcript": "ENST00000679542.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8520,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.3998A>C",
"hgvs_p": null,
"transcript": "ENST00000680635.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680635.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.*3269A>C",
"hgvs_p": null,
"transcript": "ENST00000680871.1",
"protein_id": "ENSP00000505042.1",
"transcript_support_level": null,
"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": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.1175A>C",
"hgvs_p": null,
"transcript": "ENST00000681119.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.*4118A>C",
"hgvs_p": null,
"transcript": "ENST00000681399.1",
"protein_id": "ENSP00000506363.1",
"transcript_support_level": null,
"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": 8731,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681399.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.*2637A>C",
"hgvs_p": null,
"transcript": "ENST00000681656.1",
"protein_id": "ENSP00000505638.1",
"transcript_support_level": null,
"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": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.4441A>C",
"hgvs_p": null,
"transcript": "ENST00000681885.1",
"protein_id": "ENSP00000505737.1",
"transcript_support_level": null,
"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": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681885.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L-DT",
"gene_hgnc_id": 51232,
"hgvs_c": "n.291T>G",
"hgvs_p": null,
"transcript": "ENST00000792803.1",
"protein_id": null,
"transcript_support_level": null,
"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": 446,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000792803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.*3269A>C",
"hgvs_p": null,
"transcript": "ENST00000680871.1",
"protein_id": "ENSP00000505042.1",
"transcript_support_level": null,
"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": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.*4118A>C",
"hgvs_p": null,
"transcript": "ENST00000681399.1",
"protein_id": "ENSP00000506363.1",
"transcript_support_level": null,
"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": 8731,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681399.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"hgvs_c": "n.*2637A>C",
"hgvs_p": null,
"transcript": "ENST00000681656.1",
"protein_id": "ENSP00000505638.1",
"transcript_support_level": null,
"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": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681656.1"
}
],
"gene_symbol": "ARFGEF2",
"gene_hgnc_id": 15853,
"dbsnp": "rs776211361",
"frequency_reference_population": 6.8412834e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84128e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8878899812698364,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.775,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9655,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006420.3",
"gene_symbol": "ARFGEF2",
"hgnc_id": 15853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4441A>C",
"hgvs_p": "p.Thr1481Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000417781.6",
"gene_symbol": "CSE1L-DT",
"hgnc_id": 51232,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.917T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}