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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: 1-111118183-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111118183&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111118183,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_178454.6",
"consequences": [
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "NM_001349884.2",
"protein_id": "NP_001336813.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000484310.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349884.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"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": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000484310.6",
"protein_id": "ENSP00000503400.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349884.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484310.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000286692.8",
"protein_id": "ENSP00000286692.4",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286692.8"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000539140.6",
"protein_id": "ENSP00000437718.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539140.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Trp",
"transcript": "ENST00000933769.1",
"protein_id": "ENSP00000603828.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 304,
"cds_start": 892,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933769.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Trp",
"transcript": "ENST00000944783.1",
"protein_id": "ENSP00000614842.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 304,
"cds_start": 892,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944783.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "NM_001349881.2",
"protein_id": "NP_001336810.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349881.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "NM_001349882.2",
"protein_id": "NP_001336811.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349882.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "NM_001349885.2",
"protein_id": "NP_001336814.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349885.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "NM_178454.6",
"protein_id": "NP_848549.3",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178454.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875066.1",
"protein_id": "ENSP00000545125.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875066.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875067.1",
"protein_id": "ENSP00000545126.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875067.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875069.1",
"protein_id": "ENSP00000545128.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875069.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875070.1",
"protein_id": "ENSP00000545129.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875070.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875071.1",
"protein_id": "ENSP00000545130.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875071.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875072.1",
"protein_id": "ENSP00000545131.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875072.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875074.1",
"protein_id": "ENSP00000545133.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875074.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875077.1",
"protein_id": "ENSP00000545136.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875077.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875078.1",
"protein_id": "ENSP00000545137.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875078.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875079.1",
"protein_id": "ENSP00000545138.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875079.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875080.1",
"protein_id": "ENSP00000545139.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875080.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"transcript": "ENST00000875082.1",
"protein_id": "ENSP00000545141.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 266,
"cds_start": 778,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875082.1"
},
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{
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"criteria": [
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"BP6_Moderate",
"BS1",
"BS2"
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"verdict": "Benign",
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],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}