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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: 16-1946670-ATT-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1946670&ref=ATT&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPL3L",
"hgnc_id": 10351,
"hgvs_c": "c.904_906delAATinsTCG",
"hgvs_p": "p.Asn302Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_005061.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 407,
"aa_ref": "N",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1224,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005061.3",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.904_906delAATinsTCG",
"hgvs_p": "p.Asn302Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268661.8",
"protein_coding": true,
"protein_id": "NP_005052.1",
"strand": false,
"transcript": "NM_005061.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 407,
"aa_ref": "N",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1224,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000268661.8",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.904_906delAATinsTCG",
"hgvs_p": "p.Asn302Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005061.3",
"protein_coding": true,
"protein_id": "ENSP00000268661.7",
"strand": false,
"transcript": "ENST00000268661.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1299,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968104.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.979_981delAATinsTCG",
"hgvs_p": "p.Asn327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638163.1",
"strand": false,
"transcript": "ENST00000968104.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 427,
"aa_ref": "N",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1284,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968108.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.964_966delAATinsTCG",
"hgvs_p": "p.Asn322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638167.1",
"strand": false,
"transcript": "ENST00000968108.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 412,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1239,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902258.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.919_921delAATinsTCG",
"hgvs_p": "p.Asn307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572317.1",
"strand": false,
"transcript": "ENST00000902258.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 409,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1230,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968106.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.910_912delAATinsTCG",
"hgvs_p": "p.Asn304Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638165.1",
"strand": false,
"transcript": "ENST00000968106.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 403,
"aa_ref": "N",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1212,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968111.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.892_894delAATinsTCG",
"hgvs_p": "p.Asn298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638170.1",
"strand": false,
"transcript": "ENST00000968111.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 399,
"aa_ref": "N",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1200,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968109.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.880_882delAATinsTCG",
"hgvs_p": "p.Asn294Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638168.1",
"strand": false,
"transcript": "ENST00000968109.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "N",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1197,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968103.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.877_879delAATinsTCG",
"hgvs_p": "p.Asn293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638162.1",
"strand": false,
"transcript": "ENST00000968103.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "N",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1197,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968112.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.877_879delAATinsTCG",
"hgvs_p": "p.Asn293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638171.1",
"strand": false,
"transcript": "ENST00000968112.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1140,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968110.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.820_822delAATinsTCG",
"hgvs_p": "p.Asn274Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638169.1",
"strand": false,
"transcript": "ENST00000968110.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1119,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968107.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.919_921delAATinsTCG",
"hgvs_p": "p.Asn307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638166.1",
"strand": false,
"transcript": "ENST00000968107.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "N",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1104,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902259.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.904_906delAATinsTCG",
"hgvs_p": "p.Asn302Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572318.1",
"strand": false,
"transcript": "ENST00000902259.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 412,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1239,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522571.3",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.919_921delAATinsTCG",
"hgvs_p": "p.Asn307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520873.1",
"strand": false,
"transcript": "XM_011522571.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2046,
"cdna_start": null,
"cds_end": null,
"cds_length": 1122,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968105.1",
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"hgvs_c": "c.849+266_849+268delAATinsTCG",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638164.1",
"strand": false,
"transcript": "ENST00000968105.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10351,
"gene_symbol": "RPL3L",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.862,
"pos": 1946670,
"ref": "ATT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_005061.3"
}
]
}