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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: 1-156482942-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156482942&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156482942,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000348159.9",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "NM_005920.4",
"protein_id": "NP_005911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": "ENST00000348159.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "ENST00000348159.9",
"protein_id": "ENSP00000271555.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": "NM_005920.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "ENST00000360595.7",
"protein_id": "ENSP00000353803.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "NM_001271629.2",
"protein_id": "NP_001258558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "ENST00000464356.6",
"protein_id": "ENSP00000476788.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5598,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "n.54+297A>T",
"hgvs_p": null,
"transcript": "ENST00000475587.2",
"protein_id": "ENSP00000477413.1",
"transcript_support_level": 5,
"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": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "XM_005245169.5",
"protein_id": "XP_005245226.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "XM_005245170.4",
"protein_id": "XP_005245227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
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"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEF2D",
"gene_hgnc_id": 6997,
"hgvs_c": "c.54+297A>T",
"hgvs_p": null,
"transcript": "XM_006711330.4",
"protein_id": "XP_006711393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
{
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],
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"gene_symbol": "MEF2D",
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"transcript": "XM_011509569.4",
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},
{
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"consequences": [
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],
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"gene_symbol": "MEF2D",
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],
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],
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],
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],
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}