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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: 17-8379846-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8379846&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8379846,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000648839.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "NM_000987.5",
"protein_id": "NP_000978.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 528,
"mane_select": "ENST00000648839.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000648839.1",
"protein_id": "ENSP00000498177.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 528,
"mane_select": "NM_000987.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263809",
"gene_hgnc_id": null,
"hgvs_c": "n.259C>T",
"hgvs_p": null,
"transcript": "ENST00000582471.1",
"protein_id": "ENSP00000463847.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "NM_001315530.2",
"protein_id": "NP_001302459.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "NM_001315531.2",
"protein_id": "NP_001302460.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000582556.5",
"protein_id": "ENSP00000463470.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000583011.6",
"protein_id": "ENSP00000462322.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000584164.6",
"protein_id": "ENSP00000463784.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 145,
"cds_start": 259,
"cds_end": null,
"cds_length": 438,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Trp",
"transcript": "ENST00000582485.5",
"protein_id": "ENSP00000464143.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 134,
"cds_start": 256,
"cds_end": null,
"cds_length": 405,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000578812.5",
"protein_id": "ENSP00000463910.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 110,
"cds_start": 259,
"cds_end": null,
"cds_length": 333,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp",
"transcript": "ENST00000584343.6",
"protein_id": "ENSP00000464239.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 106,
"cds_start": 259,
"cds_end": null,
"cds_length": 323,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Arg31Trp",
"transcript": "ENST00000584441.5",
"protein_id": "ENSP00000462249.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 63,
"cds_start": 91,
"cds_end": null,
"cds_length": 192,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "n.239C>T",
"hgvs_p": null,
"transcript": "ENST00000578069.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "n.503C>T",
"hgvs_p": null,
"transcript": "ENST00000583515.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "n.*184C>T",
"hgvs_p": null,
"transcript": "ENST00000584906.6",
"protein_id": "ENSP00000462619.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "n.220C>T",
"hgvs_p": null,
"transcript": "ENST00000585176.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "n.*184C>T",
"hgvs_p": null,
"transcript": "ENST00000584906.6",
"protein_id": "ENSP00000462619.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265749",
"gene_hgnc_id": null,
"hgvs_c": "n.544-1199G>A",
"hgvs_p": null,
"transcript": "ENST00000579904.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265749",
"gene_hgnc_id": null,
"hgvs_c": "n.485-1199G>A",
"hgvs_p": null,
"transcript": "ENST00000585181.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265749",
"gene_hgnc_id": null,
"hgvs_c": "n.159-1199G>A",
"hgvs_p": null,
"transcript": "ENST00000666354.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265749",
"gene_hgnc_id": null,
"hgvs_c": "n.200-1199G>A",
"hgvs_p": null,
"transcript": "ENST00000774784.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"dbsnp": "rs878854147",
"frequency_reference_population": 0.000001239592,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84279e-7,
"gnomad_genomes_af": 0.00000657713,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.770737886428833,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9753,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.161,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648839.1",
"gene_symbol": "RPL26",
"hgnc_id": 10327,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Trp"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000582471.1",
"gene_symbol": "ENSG00000263809",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259C>T",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000579904.6",
"gene_symbol": "ENSG00000265749",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.544-1199G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Diamond-Blackfan anemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Diamond-Blackfan anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}