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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: 21-43060451-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43060451&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43060451,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000071.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "NM_000071.3",
"protein_id": "NP_000062.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "ENST00000398165.8",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "ENST00000398165.8",
"protein_id": "ENSP00000381231.4",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "NM_000071.3",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "ENST00000352178.9",
"protein_id": "ENSP00000344460.5",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2583,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "ENST00000359624.7",
"protein_id": "ENSP00000352643.3",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2353,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "ENST00000398158.5",
"protein_id": "ENSP00000381225.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2453,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "n.1446C>T",
"hgvs_p": null,
"transcript": "ENST00000461686.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2656,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "NM_001178008.3",
"protein_id": "NP_001171479.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2582,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "NM_001178009.3",
"protein_id": "NP_001171480.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2368,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "NM_001320298.2",
"protein_id": "NP_001307227.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2603,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Trp",
"transcript": "NM_001321072.1",
"protein_id": "NP_001308001.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 446,
"cds_start": 820,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2656,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Arg32Trp",
"transcript": "ENST00000430013.1",
"protein_id": "ENSP00000405929.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 223,
"cds_start": 94,
"cds_end": null,
"cds_length": 672,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 828,
"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": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396Trp",
"transcript": "XM_011529774.3",
"protein_id": "XP_011528076.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 582,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2544,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396Trp",
"transcript": "XM_047441017.1",
"protein_id": "XP_047296973.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 582,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2758,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396Trp",
"transcript": "XM_047441018.1",
"protein_id": "XP_047296974.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 568,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2716,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396Trp",
"transcript": "XM_047441019.1",
"protein_id": "XP_047296975.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 568,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2502,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_011529777.2",
"protein_id": "XP_011528079.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2537,
"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": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_047441020.1",
"protein_id": "XP_047296976.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2323,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_047441021.1",
"protein_id": "XP_047296977.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2624,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_047441022.1",
"protein_id": "XP_047296978.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3804,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_047441023.1",
"protein_id": "XP_047296979.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3059,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_047441024.1",
"protein_id": "XP_047296980.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2645,
"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": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_047441025.1",
"protein_id": "XP_047296981.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 565,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 3080,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "XM_017028491.3",
"protein_id": "XP_016883980.1",
"transcript_support_level": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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{
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"pathogenic_score": 17,
"criteria": [
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"PP2",
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"clinvar_disease": " CBS-RELATED, THROMBOTIC,Classic homocystinuria,HYPERHOMOCYSTEINEMIA,Homocystinuria,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:4",
"phenotype_combined": "not provided|Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}