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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: 6-54190039-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=54190039&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 54190039,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000502396.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.2589+125A>T",
"hgvs_p": null,
"transcript": "NM_001281747.2",
"protein_id": "NP_001268676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": "ENST00000502396.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.2589+125A>T",
"hgvs_p": null,
"transcript": "ENST00000502396.6",
"protein_id": "ENSP00000426290.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": "NM_001281747.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.2556+125A>T",
"hgvs_p": null,
"transcript": "ENST00000514921.5",
"protein_id": "ENSP00000425142.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.516+125A>T",
"hgvs_p": null,
"transcript": "ENST00000370876.6",
"protein_id": "ENSP00000359913.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "n.2622+125A>T",
"hgvs_p": null,
"transcript": "ENST00000511744.1",
"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": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.2556+125A>T",
"hgvs_p": null,
"transcript": "NM_001281746.2",
"protein_id": "NP_001268675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.984+125A>T",
"hgvs_p": null,
"transcript": "NM_138569.3",
"protein_id": "NP_612636.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
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"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.984+125A>T",
"hgvs_p": null,
"transcript": "ENST00000274897.9",
"protein_id": "ENSP00000274897.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.771+125A>T",
"hgvs_p": null,
"transcript": "ENST00000514433.1",
"protein_id": "ENSP00000421444.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.672+125A>T",
"hgvs_p": null,
"transcript": "ENST00000370877.6",
"protein_id": "ENSP00000359914.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
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"cds_length": 807,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.546+125A>T",
"hgvs_p": null,
"transcript": "ENST00000509997.5",
"protein_id": "ENSP00000427584.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "MLIP",
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"hgvs_c": "c.486+125A>T",
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"transcript": "ENST00000447836.6",
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},
{
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],
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"gene_symbol": "MLIP",
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"hgvs_c": "c.2589+125A>T",
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"transcript": "XM_006715245.4",
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},
{
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],
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"gene_symbol": "MLIP",
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"hgvs_c": "c.2556+125A>T",
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},
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],
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},
{
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],
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"gene_symbol": "MLIP",
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"hgvs_c": "c.2445+125A>T",
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],
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"hgvs_c": "c.2445+125A>T",
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"transcript": "XM_017011466.3",
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},
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"strand": true,
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],
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"intron_rank": 9,
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"gene_symbol": "MLIP",
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"hgvs_c": "c.2400+125A>T",
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"transcript": "XM_005249478.6",
"protein_id": "XP_005249535.1",
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},
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "MLIP",
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],
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},
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],
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},
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],
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"gene_symbol": "MLIP",
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"hgvs_c": "c.900+125A>T",
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"transcript": "XM_024446579.2",
"protein_id": "XP_024302347.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
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"intron_rank_end": null,
"gene_symbol": "MLIP",
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"hgvs_c": "c.840+125A>T",
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{
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"verdict": "Likely_benign",
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},
{
"score": -2,
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],
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"clinvar_review_status": "",
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}
],
"message": null
}