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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: 19-51345232-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51345232&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51345232,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001014763.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Leu249Leu",
"transcript": "NM_001985.3",
"protein_id": "NP_001976.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 255,
"cds_start": 747,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309244.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001985.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Leu249Leu",
"transcript": "ENST00000309244.9",
"protein_id": "ENSP00000311930.3",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 255,
"cds_start": 747,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001985.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309244.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Leu340Leu",
"transcript": "ENST00000354232.8",
"protein_id": "ENSP00000346173.3",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 346,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354232.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Leu340Leu",
"transcript": "NM_001014763.1",
"protein_id": "NP_001014763.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 346,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014763.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.822G>A",
"hgvs_p": "p.Leu274Leu",
"transcript": "ENST00000903309.1",
"protein_id": "ENSP00000573368.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 280,
"cds_start": 822,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903309.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.756G>A",
"hgvs_p": "p.Leu252Leu",
"transcript": "ENST00000903308.1",
"protein_id": "ENSP00000573367.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 258,
"cds_start": 756,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903308.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Leu248Leu",
"transcript": "ENST00000903304.1",
"protein_id": "ENSP00000573363.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 254,
"cds_start": 744,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903304.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Leu246Leu",
"transcript": "ENST00000903307.1",
"protein_id": "ENSP00000573366.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 252,
"cds_start": 738,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903307.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.735G>A",
"hgvs_p": "p.Leu245Leu",
"transcript": "ENST00000903310.1",
"protein_id": "ENSP00000573369.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 251,
"cds_start": 735,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903310.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Leu243Leu",
"transcript": "ENST00000903306.1",
"protein_id": "ENSP00000573365.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 249,
"cds_start": 729,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903306.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Leu228Leu",
"transcript": "ENST00000903303.1",
"protein_id": "ENSP00000573362.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 234,
"cds_start": 684,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903303.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Leu218Leu",
"transcript": "ENST00000903302.1",
"protein_id": "ENSP00000573361.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 224,
"cds_start": 654,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903302.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.588G>A",
"hgvs_p": "p.Leu196Leu",
"transcript": "ENST00000903305.1",
"protein_id": "ENSP00000573364.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 202,
"cds_start": 588,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903305.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.525G>A",
"hgvs_p": "p.Leu175Leu",
"transcript": "ENST00000922469.1",
"protein_id": "ENSP00000592528.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 181,
"cds_start": 525,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922469.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.366G>A",
"hgvs_p": "p.Leu122Leu",
"transcript": "ENST00000970335.1",
"protein_id": "ENSP00000640394.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 128,
"cds_start": 366,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970335.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Leu212Leu",
"transcript": "XM_024451418.2",
"protein_id": "XP_024307186.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 218,
"cds_start": 636,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451418.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ENSG00000267984",
"gene_hgnc_id": null,
"hgvs_c": "n.64C>T",
"hgvs_p": null,
"transcript": "ENST00000600974.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000600974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "ENST00000596253.1",
"protein_id": "ENSP00000469628.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596253.1"
}
],
"gene_symbol": "ETFB",
"gene_hgnc_id": 3482,
"dbsnp": "rs746450125",
"frequency_reference_population": 6.840516e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84052e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.526,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001014763.1",
"gene_symbol": "ETFB",
"hgnc_id": 3482,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Leu340Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000600974.1",
"gene_symbol": "ENSG00000267984",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.64C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Multiple acyl-CoA dehydrogenase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Multiple acyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}