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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: 11-47312973-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47312973&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47312973,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000706887.1",
"consequences": [
{
"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": 37,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4269+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000706887.1",
"protein_id": "ENSP00000516604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": -4,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6036,
"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": 36,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4269+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000311027.9",
"protein_id": "ENSP00000310933.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": -4,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5990,
"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": 34,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4152+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000349238.7",
"protein_id": "ENSP00000304505.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1608,
"cds_start": -4,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5873,
"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": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4092+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000342922.8",
"protein_id": "ENSP00000343902.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1588,
"cds_start": -4,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6005,
"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": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4089+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000402192.6",
"protein_id": "ENSP00000384287.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1587,
"cds_start": -4,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5823,
"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": 35,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4269+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000395336.7",
"protein_id": "ENSP00000378745.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5942,
"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": 34,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4023+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000407859.7",
"protein_id": "ENSP00000384204.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1565,
"cds_start": -4,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
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"cdna_length": 5744,
"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": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.3963+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000402799.5",
"protein_id": "ENSP00000385585.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1545,
"cds_start": -4,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5684,
"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": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.3963+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000406482.5",
"protein_id": "ENSP00000384435.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1479,
"cds_start": -4,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5614,
"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": 37,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4269+1131G>A",
"hgvs_p": null,
"transcript": "NM_001376571.1",
"protein_id": "NP_001363500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": -4,
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"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": 36,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4269+1131G>A",
"hgvs_p": null,
"transcript": "NM_003682.4",
"protein_id": "NP_003673.3",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MADD",
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"transcript": "NM_001376572.1",
"protein_id": "NP_001363501.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MADD",
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"hgvs_c": "c.4257+1131G>A",
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"transcript": "NM_001376573.1",
"protein_id": "NP_001363502.1",
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},
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"consequences": [
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],
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"gene_symbol": "MADD",
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"transcript": "NM_001376574.1",
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},
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],
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"gene_symbol": "MADD",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 28,
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"gene_symbol": "MADD",
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"hgvs_c": "c.4197+1131G>A",
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},
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],
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"gene_symbol": "MADD",
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"hgvs_c": "c.4197+1131G>A",
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"transcript": "NM_001376577.1",
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},
{
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],
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"gene_symbol": "MADD",
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"hgvs_c": "c.4197+1131G>A",
"hgvs_p": null,
"transcript": "ENST00000634938.2",
"protein_id": "ENSP00000489300.2",
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},
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],
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"gene_symbol": "MADD",
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],
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"gene_symbol": "MADD",
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 27,
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"gene_symbol": "MADD",
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"hgvs_c": "c.4143+1131G>A",
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"transcript": "NM_001376580.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 37,
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"gene_symbol": "MADD",
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"hgvs_c": "c.4128+1131G>A",
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"transcript": "NM_001376581.1",
"protein_id": "NP_001363510.1",
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}
],
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}