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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: 8-21693288-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=21693288&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 21693288,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001495.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "NM_001495.5",
"protein_id": "NP_001486.4",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000524240.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001495.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "ENST00000524240.6",
"protein_id": "ENSP00000428518.1",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001495.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524240.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Leu357Pro",
"transcript": "ENST00000517892.5",
"protein_id": "ENSP00000429979.1",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 359,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517892.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000518077.5",
"protein_id": "ENSP00000429206.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 331,
"cds_start": 986,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518077.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "ENST00000517328.5",
"protein_id": "ENSP00000429445.1",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517328.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "ENST00000878618.1",
"protein_id": "ENSP00000548677.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878618.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "ENST00000930225.1",
"protein_id": "ENSP00000600283.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930225.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Leu357Pro",
"transcript": "NM_001165038.2",
"protein_id": "NP_001158510.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 359,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165038.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "NM_001165039.2",
"protein_id": "NP_001158511.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 331,
"cds_start": 986,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165039.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000970836.1",
"protein_id": "ENSP00000640895.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 331,
"cds_start": 986,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970836.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "XM_006716327.4",
"protein_id": "XP_006716390.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716327.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "XM_011544484.3",
"protein_id": "XP_011542786.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544484.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro",
"transcript": "XM_047421687.1",
"protein_id": "XP_047277643.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 464,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421687.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Leu391Pro",
"transcript": "XM_024447127.2",
"protein_id": "XP_024302895.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 393,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447127.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "n.*1439T>C",
"hgvs_p": null,
"transcript": "ENST00000306793.4",
"protein_id": "ENSP00000306654.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000306793.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"hgvs_c": "n.*1439T>C",
"hgvs_p": null,
"transcript": "ENST00000306793.4",
"protein_id": "ENSP00000306654.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000306793.4"
}
],
"gene_symbol": "GFRA2",
"gene_hgnc_id": 4244,
"dbsnp": "rs1128397",
"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": 0.7274597883224487,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.344,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001495.5",
"gene_symbol": "GFRA2",
"hgnc_id": 4244,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1385T>C",
"hgvs_p": "p.Leu462Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}