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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: 12-57273478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57273478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57273478,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000402412.6",
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1345-3484C>T",
"hgvs_p": null,
"transcript": "NM_001394031.1",
"protein_id": "NP_001380960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": -4,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": "ENST00000402412.6",
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1345-3484C>T",
"hgvs_p": null,
"transcript": "ENST00000402412.6",
"protein_id": "ENSP00000385839.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": -4,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": "NM_001394031.1",
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1303-3484C>T",
"hgvs_p": null,
"transcript": "ENST00000347140.7",
"protein_id": "ENSP00000317903.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": -4,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4331,
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "n.1139-3484C>T",
"hgvs_p": null,
"transcript": "ENST00000393811.6",
"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": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258830",
"gene_hgnc_id": null,
"hgvs_c": "n.*395-3484C>T",
"hgvs_p": null,
"transcript": "ENST00000548184.1",
"protein_id": "ENSP00000477227.1",
"transcript_support_level": 2,
"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": 2107,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1399-924C>T",
"hgvs_p": null,
"transcript": "NM_001351204.2",
"protein_id": "NP_001338133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": -4,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4567,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1399-924C>T",
"hgvs_p": null,
"transcript": "NM_001351205.2",
"protein_id": "NP_001338134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": -4,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4461,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1399-924C>T",
"hgvs_p": null,
"transcript": "NM_001351206.2",
"protein_id": "NP_001338135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": -4,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1369-924C>T",
"hgvs_p": null,
"transcript": "NM_001351207.2",
"protein_id": "NP_001338136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1032,
"cds_start": -4,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4638,
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1345-924C>T",
"hgvs_p": null,
"transcript": "NM_001351208.2",
"protein_id": "NP_001338137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
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"cds_length": 3075,
"cdna_start": 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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1303-924C>T",
"hgvs_p": null,
"transcript": "NM_001330121.2",
"protein_id": "NP_001317050.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 13,
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"gene_symbol": "R3HDM2",
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"hgvs_c": "c.1303-924C>T",
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"transcript": "NM_001330122.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1303-924C>T",
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"transcript": "ENST00000403821.6",
"protein_id": "ENSP00000385169.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
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"gene_symbol": "R3HDM2",
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"hgvs_c": "c.1399-3484C>T",
"hgvs_p": null,
"transcript": "NM_001351209.2",
"protein_id": "NP_001338138.1",
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},
{
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],
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"intron_rank": 15,
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"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1369-3484C>T",
"hgvs_p": null,
"transcript": "NM_001351211.2",
"protein_id": "NP_001338140.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1249-924C>T",
"hgvs_p": null,
"transcript": "NM_001351212.2",
"protein_id": "NP_001338141.1",
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},
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],
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"intron_rank": 12,
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"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1249-924C>T",
"hgvs_p": null,
"transcript": "NM_001351213.2",
"protein_id": "NP_001338142.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1249-924C>T",
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"transcript": "NM_001351214.2",
"protein_id": "NP_001338143.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
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"gene_symbol": "R3HDM2",
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"hgvs_c": "c.1249-924C>T",
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],
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"gene_symbol": "R3HDM2",
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"hgvs_c": "c.1339-3484C>T",
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},
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],
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"gene_symbol": "R3HDM2",
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"transcript": "NM_014925.5",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1303-3484C>T",
"hgvs_p": null,
"transcript": "ENST00000358907.6",
"protein_id": "ENSP00000351784.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1273-3484C>T",
"hgvs_p": null,
"transcript": "NM_001330123.2",
"protein_id": "NP_001317052.1",
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