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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: 12-6542515-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6542515&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6542515,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000619571.5",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1480-873A>T",
"hgvs_p": null,
"transcript": "NM_001193457.2",
"protein_id": "NP_001180386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": "ENST00000619571.5",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1480-873A>T",
"hgvs_p": null,
"transcript": "ENST00000619571.5",
"protein_id": "ENSP00000482285.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": "NM_001193457.2",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1453-873A>T",
"hgvs_p": null,
"transcript": "ENST00000336604.8",
"protein_id": "ENSP00000337593.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.664-873A>T",
"hgvs_p": null,
"transcript": "ENST00000396830.2",
"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": 1776,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.*758-873A>T",
"hgvs_p": null,
"transcript": "ENST00000487279.6",
"protein_id": "ENSP00000432493.2",
"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": 2786,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1456-873A>T",
"hgvs_p": null,
"transcript": "NM_001039670.3",
"protein_id": "NP_001034759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3227,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1456-873A>T",
"hgvs_p": null,
"transcript": "ENST00000356896.8",
"protein_id": "ENSP00000349364.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2680,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1453-873A>T",
"hgvs_p": null,
"transcript": "NM_080730.5",
"protein_id": "NP_542768.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3224,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1450-873A>T",
"hgvs_p": null,
"transcript": "NM_001330325.2",
"protein_id": "NP_001317254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3221,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1444-873A>T",
"hgvs_p": null,
"transcript": "NM_001330324.2",
"protein_id": "NP_001317253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
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"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1444-873A>T",
"hgvs_p": null,
"transcript": "ENST00000396840.6",
"protein_id": "ENSP00000380052.2",
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"cds_start": -4,
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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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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "IFFO1",
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"hgvs_c": "c.532-873A>T",
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"transcript": "ENST00000465801.5",
"protein_id": "ENSP00000436261.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.1085-873A>T",
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"transcript": "ENST00000471408.5",
"protein_id": null,
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"aa_start": null,
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},
{
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],
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"gene_symbol": "IFFO1",
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"hgvs_c": "n.813-873A>T",
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"transcript": "ENST00000472558.6",
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},
{
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],
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"gene_symbol": "IFFO1",
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"hgvs_c": "n.1859-873A>T",
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"transcript": "ENST00000488007.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "n.1566-873A>T",
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"transcript": "NR_036467.2",
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},
{
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],
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"gene_symbol": "IFFO1",
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"hgvs_c": "c.1744-873A>T",
"hgvs_p": null,
"transcript": "XM_047428689.1",
"protein_id": "XP_047284645.1",
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},
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"consequences": [
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],
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"intron_rank": 7,
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"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1741-873A>T",
"hgvs_p": null,
"transcript": "XM_047428690.1",
"protein_id": "XP_047284646.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1720-873A>T",
"hgvs_p": null,
"transcript": "XM_011520947.4",
"protein_id": "XP_011519249.1",
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},
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],
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},
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],
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"gene_symbol": "IFFO1",
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"hgvs_c": "c.1711-873A>T",
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},
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],
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"intron_rank": 7,
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"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1744-662A>T",
"hgvs_p": null,
"transcript": "XM_047428691.1",
"protein_id": "XP_047284647.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFFO1",
"gene_hgnc_id": 24970,
"hgvs_c": "c.1477-873A>T",
"hgvs_p": null,
"transcript": "XM_047428692.1",
"protein_id": "XP_047284648.1",
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},
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{
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}