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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: 21-31124502-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31124502&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31124502,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_003253.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353694.2",
"protein_id": "NP_001340623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000541036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000541036.6",
"protein_id": "ENSP00000441570.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541036.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4326G>A",
"hgvs_p": "p.Thr1442Thr",
"transcript": "ENST00000698169.1",
"protein_id": "ENSP00000513591.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1452,
"cds_start": 4326,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698169.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4326G>A",
"hgvs_p": "p.Thr1442Thr",
"transcript": "XM_005261040.3",
"protein_id": "XP_005261097.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1452,
"cds_start": 4326,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261040.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4384+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923710.1",
"protein_id": "ENSP00000593769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1617,
"cds_start": null,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353688.1",
"protein_id": "NP_001340617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353689.1",
"protein_id": "NP_001340618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353690.1",
"protein_id": "NP_001340619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353691.1",
"protein_id": "NP_001340620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353692.1",
"protein_id": "NP_001340621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_001353693.1",
"protein_id": "NP_001340622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "NM_003253.3",
"protein_id": "NP_003244.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003253.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000286827.7",
"protein_id": "ENSP00000286827.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286827.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000869069.1",
"protein_id": "ENSP00000539128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923707.1",
"protein_id": "ENSP00000593766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923708.1",
"protein_id": "ENSP00000593767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923709.1",
"protein_id": "ENSP00000593768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
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"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923711.1",
"protein_id": "ENSP00000593770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923711.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923713.1",
"protein_id": "ENSP00000593772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923713.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4306+20G>A",
"hgvs_p": null,
"transcript": "ENST00000923714.1",
"protein_id": "ENSP00000593773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4231+20G>A",
"hgvs_p": null,
"transcript": "NM_001353686.2",
"protein_id": "NP_001340615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": null,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353686.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4231+20G>A",
"hgvs_p": null,
"transcript": "NM_001353687.2",
"protein_id": "NP_001340616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": null,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353687.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"acmg_by_gene": [
{
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"BS1",
"BS2"
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"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"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
}