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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: 1-54174681-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54174681&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54174681,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001031672.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Lys296Glu",
"transcript": "NM_001031672.4",
"protein_id": "NP_001026842.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 315,
"cds_start": 886,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534324.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031672.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"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": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Lys296Glu",
"transcript": "ENST00000534324.6",
"protein_id": "ENSP00000434343.1",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 315,
"cds_start": 886,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031672.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534324.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.*880A>G",
"hgvs_p": null,
"transcript": "ENST00000420054.5",
"protein_id": "ENSP00000403021.1",
"transcript_support_level": 1,
"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": "ENST00000420054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.*524A>G",
"hgvs_p": null,
"transcript": "ENST00000421415.5",
"protein_id": "ENSP00000394709.1",
"transcript_support_level": 1,
"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": "ENST00000421415.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.*524A>G",
"hgvs_p": null,
"transcript": "ENST00000528287.5",
"protein_id": "ENSP00000431428.1",
"transcript_support_level": 1,
"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": "ENST00000528287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.*880A>G",
"hgvs_p": null,
"transcript": "ENST00000420054.5",
"protein_id": "ENSP00000403021.1",
"transcript_support_level": 1,
"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": "ENST00000420054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.*524A>G",
"hgvs_p": null,
"transcript": "ENST00000421415.5",
"protein_id": "ENSP00000394709.1",
"transcript_support_level": 1,
"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": "ENST00000421415.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.*524A>G",
"hgvs_p": null,
"transcript": "ENST00000528287.5",
"protein_id": "ENSP00000431428.1",
"transcript_support_level": 1,
"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": "ENST00000528287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256407",
"gene_hgnc_id": null,
"hgvs_c": "n.303+9480A>G",
"hgvs_p": null,
"transcript": "ENST00000637610.1",
"protein_id": "ENSP00000490901.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637610.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Lys296Glu",
"transcript": "ENST00000886275.1",
"protein_id": "ENSP00000556334.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 315,
"cds_start": 886,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886275.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Lys296Glu",
"transcript": "ENST00000913265.1",
"protein_id": "ENSP00000583324.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 315,
"cds_start": 886,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913265.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Lys270Glu",
"transcript": "ENST00000886276.1",
"protein_id": "ENSP00000556335.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 289,
"cds_start": 808,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886276.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.682A>G",
"hgvs_p": "p.Lys228Glu",
"transcript": "ENST00000287899.13",
"protein_id": "ENSP00000287899.8",
"transcript_support_level": 3,
"aa_start": 228,
"aa_end": null,
"aa_length": 247,
"cds_start": 682,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287899.13"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Lys217Glu",
"transcript": "NM_001353353.2",
"protein_id": "NP_001340282.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 236,
"cds_start": 649,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353353.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Lys217Glu",
"transcript": "ENST00000886277.1",
"protein_id": "ENSP00000556336.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 236,
"cds_start": 649,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886277.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Lys217Glu",
"transcript": "ENST00000886278.1",
"protein_id": "ENSP00000556337.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 236,
"cds_start": 649,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886278.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.604A>G",
"hgvs_p": "p.Lys202Glu",
"transcript": "ENST00000963052.1",
"protein_id": "ENSP00000633111.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 221,
"cds_start": 604,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963052.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Lys149Glu",
"transcript": "ENST00000963051.1",
"protein_id": "ENSP00000633110.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 168,
"cds_start": 445,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963051.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "NM_001353354.2",
"protein_id": "NP_001340283.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 167,
"cds_start": 442,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353354.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"hgvs_c": "n.3318A>G",
"hgvs_p": null,
"transcript": "ENST00000490863.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490863.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256407",
"gene_hgnc_id": null,
"hgvs_c": "n.*178+9480A>G",
"hgvs_p": null,
"transcript": "ENST00000311841.7",
"protein_id": "ENSP00000457656.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000311841.7"
}
],
"gene_symbol": "CYB5RL",
"gene_hgnc_id": 32220,
"dbsnp": "rs368711832",
"frequency_reference_population": 0.00034518575,
"hom_count_reference_population": 3,
"allele_count_reference_population": 557,
"gnomad_exomes_af": 0.000359955,
"gnomad_genomes_af": 0.000203506,
"gnomad_exomes_ac": 526,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027490466833114624,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.0617,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001031672.4",
"gene_symbol": "CYB5RL",
"hgnc_id": 32220,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Lys296Glu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000637610.1",
"gene_symbol": "ENSG00000256407",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.303+9480A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}