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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: 21-43065673-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43065673&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43065673,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000071.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "NM_000071.3",
"protein_id": "NP_000062.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398165.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000071.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000398165.8",
"protein_id": "ENSP00000381231.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000071.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398165.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000352178.9",
"protein_id": "ENSP00000344460.5",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352178.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000359624.7",
"protein_id": "ENSP00000352643.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359624.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000398158.5",
"protein_id": "ENSP00000381225.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398158.5"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "n.785G>C",
"hgvs_p": null,
"transcript": "ENST00000461686.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000461686.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000886719.1",
"protein_id": "ENSP00000556778.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 640,
"cds_start": 474,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886719.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000939300.1",
"protein_id": "ENSP00000609359.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 640,
"cds_start": 474,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939300.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.723G>C",
"hgvs_p": "p.Ala241Ala",
"transcript": "ENST00000939297.1",
"protein_id": "ENSP00000609356.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 634,
"cds_start": 723,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939297.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000939292.1",
"protein_id": "ENSP00000609351.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 626,
"cds_start": 474,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939292.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000886706.1",
"protein_id": "ENSP00000556765.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 623,
"cds_start": 474,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886706.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000961049.1",
"protein_id": "ENSP00000631108.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 623,
"cds_start": 474,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961049.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000939295.1",
"protein_id": "ENSP00000609354.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 578,
"cds_start": 474,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939295.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.546G>C",
"hgvs_p": "p.Ala182Ala",
"transcript": "ENST00000961046.1",
"protein_id": "ENSP00000631105.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 575,
"cds_start": 546,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961046.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000886729.1",
"protein_id": "ENSP00000556788.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 569,
"cds_start": 474,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886729.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000939289.1",
"protein_id": "ENSP00000609348.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 563,
"cds_start": 474,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939289.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "NM_001178008.3",
"protein_id": "NP_001171479.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178008.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "NM_001178009.3",
"protein_id": "NP_001171480.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178009.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "NM_001320298.2",
"protein_id": "NP_001307227.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320298.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000886703.1",
"protein_id": "ENSP00000556762.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886703.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000886704.1",
"protein_id": "ENSP00000556763.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886704.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.474G>C",
"hgvs_p": "p.Ala158Ala",
"transcript": "ENST00000886705.1",
"protein_id": "ENSP00000556764.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 551,
"cds_start": 474,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886705.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
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{
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],
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not provided|Familial thoracic aortic aneurysm and aortic dissection|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}