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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: 2-227270915-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227270915&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227270915,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000396578.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "NM_000091.5",
"protein_id": "NP_000082.2",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1670,
"cds_start": 1721,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": "ENST00000396578.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "ENST00000396578.8",
"protein_id": "ENSP00000379823.3",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 1670,
"cds_start": 1721,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": "NM_000091.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.423-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000439598.6",
"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": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "XM_005246277.4",
"protein_id": "XP_005246334.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1635,
"cds_start": 1721,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 7933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "XM_011510555.2",
"protein_id": "XP_011508857.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1721,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "XM_047443224.1",
"protein_id": "XP_047299180.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1498,
"cds_start": 1721,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "XM_006712245.4",
"protein_id": "XP_006712308.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1721,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "XM_017003295.2",
"protein_id": "XP_016858784.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1721,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "c.1721C>A",
"hgvs_p": "p.Pro574Gln",
"transcript": "XM_005246280.4",
"protein_id": "XP_005246337.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1721,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A3",
"gene_hgnc_id": 2204,
"hgvs_c": "n.1824C>A",
"hgvs_p": null,
"transcript": "XR_001738601.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.580-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000396588.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.400-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000433324.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.217-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000437673.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.239-4980G>T",
"hgvs_p": null,
"transcript": "ENST00000606119.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.160-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000656540.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.232-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000656707.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.438-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000656771.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.492-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000657158.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.368-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000657873.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.428-2146G>T",
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"transcript": "ENST00000658093.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.70-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000658632.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.242-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000660803.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MFF-DT",
"gene_hgnc_id": 41067,
"hgvs_c": "n.435-2146G>T",
"hgvs_p": null,
"transcript": "ENST00000662009.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2110,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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{
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"verdict": "Uncertain_significance",
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{
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}