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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: 6-83216581-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83216581&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83216581,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002395.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "NM_002395.6",
"protein_id": "NP_002386.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 572,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369705.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002395.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "ENST00000369705.4",
"protein_id": "ENSP00000358719.3",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 572,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002395.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369705.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1579G>T",
"hgvs_p": "p.Val527Leu",
"transcript": "ENST00000956348.1",
"protein_id": "ENSP00000626407.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 610,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956348.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Val507Leu",
"transcript": "ENST00000956344.1",
"protein_id": "ENSP00000626403.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 590,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956344.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1462G>T",
"hgvs_p": "p.Val488Leu",
"transcript": "ENST00000956342.1",
"protein_id": "ENSP00000626401.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 571,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956342.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1462G>T",
"hgvs_p": "p.Val488Leu",
"transcript": "ENST00000956343.1",
"protein_id": "ENSP00000626402.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 571,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956343.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1399G>T",
"hgvs_p": "p.Val467Leu",
"transcript": "ENST00000901911.1",
"protein_id": "ENSP00000571970.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 550,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901911.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1393G>T",
"hgvs_p": "p.Val465Leu",
"transcript": "ENST00000956347.1",
"protein_id": "ENSP00000626406.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 548,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956347.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Val439Leu",
"transcript": "ENST00000901910.1",
"protein_id": "ENSP00000571969.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 522,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901910.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Val435Leu",
"transcript": "ENST00000956346.1",
"protein_id": "ENSP00000626405.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 518,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956346.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1291G>T",
"hgvs_p": "p.Val431Leu",
"transcript": "ENST00000901909.1",
"protein_id": "ENSP00000571968.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 514,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901909.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1225G>T",
"hgvs_p": "p.Val409Leu",
"transcript": "ENST00000901913.1",
"protein_id": "ENSP00000571972.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 492,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901913.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.943G>T",
"hgvs_p": "p.Val315Leu",
"transcript": "ENST00000901912.1",
"protein_id": "ENSP00000571971.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 398,
"cds_start": 943,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1450-4487G>T",
"hgvs_p": null,
"transcript": "ENST00000956345.1",
"protein_id": "ENSP00000626404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956345.1"
}
],
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"dbsnp": "rs367907680",
"frequency_reference_population": 0.000019893248,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000205997,
"gnomad_genomes_af": 0.0000131358,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38822001218795776,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.8042,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.474,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002395.6",
"gene_symbol": "ME1",
"hgnc_id": 6983,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu"
}
],
"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
}