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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: 21-36036235-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36036235&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36036235,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017438.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "NM_017438.5",
"protein_id": "NP_059134.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332131.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017438.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000332131.9",
"protein_id": "ENSP00000329189.4",
"transcript_support_level": 2,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017438.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332131.9"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1133A>T",
"hgvs_p": "p.Asp378Val",
"transcript": "ENST00000399212.5",
"protein_id": "ENSP00000382161.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 416,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399212.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "n.1191A>T",
"hgvs_p": null,
"transcript": "ENST00000481477.5",
"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": "pseudogene",
"feature": "ENST00000481477.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"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": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1289A>T",
"hgvs_p": "p.Asp430Val",
"transcript": "ENST00000962399.1",
"protein_id": "ENSP00000632458.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 468,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962399.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000399215.5",
"protein_id": "ENSP00000382163.1",
"transcript_support_level": 2,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399215.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000902513.1",
"protein_id": "ENSP00000572572.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902513.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000902515.1",
"protein_id": "ENSP00000572574.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902515.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000902516.1",
"protein_id": "ENSP00000572575.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902516.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000902517.1",
"protein_id": "ENSP00000572576.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902517.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000931866.1",
"protein_id": "ENSP00000601925.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931866.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000931867.1",
"protein_id": "ENSP00000601926.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931867.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000931868.1",
"protein_id": "ENSP00000601927.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931868.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000931869.1",
"protein_id": "ENSP00000601928.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931869.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "ENST00000962398.1",
"protein_id": "ENSP00000632457.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962398.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Asp392Val",
"transcript": "ENST00000931865.1",
"protein_id": "ENSP00000601924.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 430,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931865.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Asp392Val",
"transcript": "ENST00000962396.1",
"protein_id": "ENSP00000632455.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 430,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962396.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1133A>T",
"hgvs_p": "p.Asp378Val",
"transcript": "NM_001286752.2",
"protein_id": "NP_001273681.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 416,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286752.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1109A>T",
"hgvs_p": "p.Asp370Val",
"transcript": "ENST00000902514.1",
"protein_id": "ENSP00000572573.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 408,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902514.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1109A>T",
"hgvs_p": "p.Asp370Val",
"transcript": "ENST00000931864.1",
"protein_id": "ENSP00000601923.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 408,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931864.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.869A>T",
"hgvs_p": "p.Asp290Val",
"transcript": "ENST00000962397.1",
"protein_id": "ENSP00000632456.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 328,
"cds_start": 869,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962397.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.1205A>T",
"hgvs_p": "p.Asp402Val",
"transcript": "XM_011529636.3",
"protein_id": "XP_011527938.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 440,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"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",
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}
],
"message": null
}