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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: 4-189955141-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=189955141&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 189955141,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004477.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Val141Ala",
"transcript": "NM_004477.3",
"protein_id": "NP_004468.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 258,
"cds_start": 422,
"cds_end": null,
"cds_length": 777,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 978,
"mane_select": "ENST00000226798.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004477.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Val141Ala",
"transcript": "ENST00000226798.9",
"protein_id": "ENSP00000226798.4",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 258,
"cds_start": 422,
"cds_end": null,
"cds_length": 777,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 978,
"mane_select": "NM_004477.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226798.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Val141Ala",
"transcript": "ENST00000896233.1",
"protein_id": "ENSP00000566292.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 263,
"cds_start": 422,
"cds_end": null,
"cds_length": 792,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896233.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Val141Ala",
"transcript": "ENST00000940554.1",
"protein_id": "ENSP00000610613.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 257,
"cds_start": 422,
"cds_end": null,
"cds_length": 774,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940554.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Val128Ala",
"transcript": "ENST00000896234.1",
"protein_id": "ENSP00000566293.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 245,
"cds_start": 383,
"cds_end": null,
"cds_length": 738,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896234.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.296T>C",
"hgvs_p": "p.Val99Ala",
"transcript": "ENST00000965223.1",
"protein_id": "ENSP00000635282.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 216,
"cds_start": 296,
"cds_end": null,
"cds_length": 651,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965223.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000940555.1",
"protein_id": "ENSP00000610614.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 173,
"cds_start": 167,
"cds_end": null,
"cds_length": 522,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940555.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Val78Ala",
"transcript": "ENST00000531991.6",
"protein_id": "ENSP00000435943.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 115,
"cds_start": 233,
"cds_end": null,
"cds_length": 348,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531991.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.49-2257T>C",
"hgvs_p": null,
"transcript": "ENST00000524583.5",
"protein_id": "ENSP00000435067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524583.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "c.49-2257T>C",
"hgvs_p": null,
"transcript": "XM_017007958.2",
"protein_id": "XP_016863447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007958.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "n.408T>C",
"hgvs_p": null,
"transcript": "ENST00000514482.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 838,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000514482.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "n.*465T>C",
"hgvs_p": null,
"transcript": "ENST00000533157.5",
"protein_id": "ENSP00000436535.1",
"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": 714,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "n.422T>C",
"hgvs_p": null,
"transcript": "ENST00000711580.1",
"protein_id": "ENSP00000518806.1",
"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": 874,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000711580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "n.491T>C",
"hgvs_p": null,
"transcript": "ENST00000711581.1",
"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": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000711581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"hgvs_c": "n.*465T>C",
"hgvs_p": null,
"transcript": "ENST00000533157.5",
"protein_id": "ENSP00000436535.1",
"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": 714,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533157.5"
}
],
"gene_symbol": "FRG1",
"gene_hgnc_id": 3954,
"dbsnp": "rs368294191",
"frequency_reference_population": 0.0000041226176,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000412262,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8491861820220947,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.418,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.657,
"phylop100way_prediction": "Pathogenic",
"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": 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_004477.3",
"gene_symbol": "FRG1",
"hgnc_id": 3954,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.422T>C",
"hgvs_p": "p.Val141Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}